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
FPR3	2359	broad.mit.edu	37	19	52327427	52327427	+	Silent	SNP	C	C	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:52327427C>A	ENST00000339223.4	+	2	605	c.426C>A	c.(424-426)gcC>gcA	p.A142A	FPR3_ENST00000595991.1_Silent_p.A142A	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	142					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TGAGTCTGGCCAAGAGGGTGA	0.483000													12	38					0.000978159	0.00114596	0.000978	1	0
NCK2	8440	broad.mit.edu	37	2	106497949	106497949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:106497949C>T	ENST00000233154.4	+	4	834	c.392C>T	c.(391-393)tCc>tTc	p.S131F	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.S131F	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	131	SH3 2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GATGAGTTGTCCCTGGTGAAG	0.642000													14	36					0	0	0.002450	0	0
SAMHD1	25939	broad.mit.edu	37	20	35575208	35575208	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:35575208C>T	ENST00000262878.4	-	2	408		c.e2-1		SAMHD1_ENST00000373694.5_Splice_Site	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1						defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATTTCATTTTCTATGGAAGAA	0.328000													9	11					0	0	0.008291	0	0
ZNF34	80778	broad.mit.edu	37	8	145998669	145998669	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:145998669C>T	ENST00000429371.2	-	6	1755	c.1602G>A	c.(1600-1602)cgG>cgA	p.R534R	ZNF34_ENST00000343459.4_Silent_p.R555R	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		AGAAGTCCTCCCGGAGGTGAA	0.602000													10	22					0	0	0.006214	0	0
OR8D1	283159	broad.mit.edu	37	11	124180299	124180299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:124180299G>A	ENST00000357821.2	-	1	434	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCAACATAGCGATCATATGCC	0.488000													9	10					0	0	0.004482	0	0
ZNF160	90338	broad.mit.edu	37	19	53572807	53572807	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:53572807T>A	ENST00000601421.1	-	3	1748	c.872A>T	c.(871-873)tAc>tTc	p.Y291F	ZNF160_ENST00000599056.1_Missense_Mutation_p.Y327F|ZNF160_ENST00000418871.1_Missense_Mutation_p.Y327F|ZNF160_ENST00000429604.1_Missense_Mutation_p.Y327F			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	327					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGTTGCAAGGTATGAATTGTG	0.403000													18	59					0	0	0.004990	0	0
RGL4	266747	broad.mit.edu	37	22	24036575	24036575	+	Missense_Mutation	SNP	C	C	G	rs143837743	byFrequency	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:24036575C>G	ENST00000290691.5	+	5	2124	c.954C>G	c.(952-954)atC>atG	p.I318M	RGL4_ENST00000401461.1_Missense_Mutation_p.I182M	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	318	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGCACGTCATCGTCTCTGCTC	0.572000													8	42					0	0	0.003080	0	0
BZRAP1	9256	broad.mit.edu	37	17	56393447	56393447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:56393447G>A	ENST00000355701.3	-	16	2905	c.2035C>T	c.(2035-2037)Ccg>Tcg	p.P679S	BZRAP1_ENST00000343736.4_Missense_Mutation_p.P679S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P619S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	679	SH3 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGTCAGCGGAAGCTCTGCT	0.522000													53	84					0	0	0.003610	0	0
SLIT2	9353	broad.mit.edu	37	4	20620478	20620478	+	Missense_Mutation	SNP	G	G	A	rs147726667		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:20620478G>A	ENST00000504154.1	+	37	4688	c.4436G>A	c.(4435-4437)cGa>cAa	p.R1479Q	SLIT2_ENST00000273739.5_Missense_Mutation_p.R1492Q|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1475Q|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1471Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1479	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.R1479Q(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGGTGTCCCGATTAGAGTGC	0.507000													25	18					0	0	0.002780	0	0
KDM2B	84678	broad.mit.edu	37	12	121947408	121947408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:121947408C>T	ENST00000377069.4	-	11	1922	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S	KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000538046.2_Missense_Mutation_p.G447S|KDM2B_ENST00000536437.1_Missense_Mutation_p.G420S|KDM2B_ENST00000377071.4_Missense_Mutation_p.G537S	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	537					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCCTCGATGCCCTCGGGGACA	0.627000													24	41					0	0	0.002299	0	0
GOLGA8A	23015	broad.mit.edu	37	15	34673702	34673702	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:34673702C>T	ENST00000543376.1	-	23	4047	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	GOLGA8A_ENST00000432566.2_Silent_p.E604E|GOLGA8A_ENST00000359187.4_Silent_p.E574E|GOLGA8A_ENST00000360553.3_Silent_p.E574E			A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	602						Golgi cisterna membrane							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GGTCCTGCATCTCACCAAGGA	0.592000													12	51					0	0	0.000978	0	0
MUC17	140453	broad.mit.edu	37	7	100679004	100679004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:100679004C>T	ENST00000306151.4	+	3	4371	c.4307C>T	c.(4306-4308)tCt>tTt	p.S1436F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1436	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCACTTCATCTCCTACAACT	0.517000													66	243					0	0	0.003610	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731541	140731541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:140731541G>A	ENST00000523390.1	+	1	1714	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTCTTCGATATGGTGCC	0.662000													12	32					0	0	0.001882	0	0
ZNF521	25925	broad.mit.edu	37	18	22807313	22807313	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:22807313T>A	ENST00000361524.3	-	4	717	c.569A>T	c.(568-570)aAg>aTg	p.K190M	ZNF521_ENST00000584787.1_De_novo_Start_InFrame|ZNF521_ENST00000538137.2_Missense_Mutation_p.K190M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	190					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TAAGTGGATCTTCAAGTGATC	0.488000			T	PAX5	ALL								38	37					0	0	0.004878	0	0
ADH1C	126	broad.mit.edu	37	4	100264011	100264011	+	RNA	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:100264011C>T	ENST00000515683.1	-	0	1120					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.458000													206	262					0	0	0.003610	0	0
GRHL2	79977	broad.mit.edu	37	8	102585948	102585948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:102585948G>A	ENST00000251808.3	+	6	1125	c.787G>A	c.(787-789)Ggg>Agg	p.G263R	GRHL2_ENST00000395927.1_Missense_Mutation_p.G247R	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	263						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TCAGAAGCAGGGGGAGGGCCC	0.507000													15	40					0	0	0.003163	0	0
RPAP1	26015	broad.mit.edu	37	15	41819137	41819137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:41819137G>A	ENST00000304330.4	-	14	1992	c.1876C>T	c.(1876-1878)Cgt>Tgt	p.R626C	RPAP1_ENST00000561603.1_Missense_Mutation_p.R626C	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	626						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCCAGGACACGAAGTAGTTTC	0.572000													87	61					0	0	0.003610	0	0
INPPL1	3636	broad.mit.edu	37	11	71945360	71945360	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:71945360T>C	ENST00000298229.2	+	20	2452	c.2248T>C	c.(2248-2250)Ttt>Ctt	p.F750L	INPPL1_ENST00000538751.1_Missense_Mutation_p.F508L|INPPL1_ENST00000541756.1_Missense_Mutation_p.F508L	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	750					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTACATTGAGTTTGAGAGCAT	0.547000													24	42					0	0	0.004656	0	0
MYO9B	4650	broad.mit.edu	37	19	17305747	17305747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:17305747G>T	ENST00000595618.1	+	22	3663	c.3511G>T	c.(3511-3513)Gag>Tag	p.E1171*	MYO9B_ENST00000594824.1_Nonsense_Mutation_p.E1171*|MYO9B_ENST00000397274.2_Nonsense_Mutation_p.E1171*	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1171	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTCCTGCAAGGAGGAGAGTGC	0.557000													17	40					7.41877e-09	8.74634e-09	0.001882	1	0
VSTM4	196740	broad.mit.edu	37	10	50255028	50255028	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:50255028C>T	ENST00000332853.3	-	7	860	c.837_splice	c.e7+1	p.L279_splice		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	279						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGTTACTTACCAGCGTGACTT	0.443000													94	36					0	0	0.003610	0	0
APPL2	55198	broad.mit.edu	37	12	105568156	105568156	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:105568156T>C	ENST00000258530.3	-	21	2156	c.1931A>G	c.(1930-1932)aAc>aGc	p.N644S	APPL2_ENST00000546731.1_Missense_Mutation_p.N87S|APPL2_ENST00000539978.2_Missense_Mutation_p.N601S|APPL2_ENST00000551662.1_Missense_Mutation_p.N650S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	644					cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGGTTGATCGTTTAACAGTAC	0.438000													31	38					0	0	0.007291	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475983	140475983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:140475983G>A	ENST00000194155.4	+	1	1757	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		537	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGCCGCAGACCGCGGCTC	0.687000													17	53					0	0	0.006122	0	0
STK24	8428	broad.mit.edu	37	13	99114116	99114116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:99114116G>A	ENST00000397517.2	-	8	1041	c.965C>T	c.(964-966)tCt>tTt	p.S322F	STK24_ENST00000539966.1_Missense_Mutation_p.S303F|STK24_ENST00000376547.3_Missense_Mutation_p.S334F	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	334					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCAGTCCCCAGAATCACTGCC	0.532000													51	63					0	0	0.003610	0	0
MKRN2	23609	broad.mit.edu	37	3	12610448	12610448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:12610448C>T	ENST00000170447.7	+	2	238	c.101C>T	c.(100-102)tCc>tTc	p.S34F	MKRN2_ENST00000411987.1_Intron|MKRN2_ENST00000448482.1_Missense_Mutation_p.S34F	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	34						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AGCAAACCGTCCACCATCTGC	0.488000													20	32					0	0	0.002299	0	0
CADM2	253559	broad.mit.edu	37	3	85961612	85961612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:85961612G>A	ENST00000383699.3	+	6	1246	c.619G>A	c.(619-621)Gga>Aga	p.G207R	CADM2_ENST00000407528.2_Missense_Mutation_p.G198R|CADM2_ENST00000405615.2_Missense_Mutation_p.G200R	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	198	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GAGTGATGATGGAGTGGCGGT	0.453000													15	29					0	0	0.004990	0	0
OR2M7	391196	broad.mit.edu	37	1	248487408	248487408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:248487408C>T	ENST00000317965.2	-	1	491	c.463G>A	c.(463-465)Gat>Aat	p.D155N		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGATTCCATCTGTAGAGCCC	0.488000													124	180					0	0	0.003610	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													3	13					0	0	0.004672	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887274	12887274	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:12887274G>A	ENST00000535591.1	-	3	778	c.583C>T	c.(583-585)Cag>Tag	p.Q195*		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	195										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ACGAGCTTCTGAAGATTCCTC	0.512000													173	246					0	0	0.003610	0	0
ZNF414	84330	broad.mit.edu	37	19	8576722	8576722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:8576722G>A	ENST00000393927.4	-	5	766	c.653C>T	c.(652-654)cCc>cTc	p.P218L	ZNF414_ENST00000255616.8_Missense_Mutation_p.P218L	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						CTCCGGCGCGGGCGGCTCTCG	0.751000													8	6					0	0	0.004482	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049351	23049351	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:23049351C>T	ENST00000221132.3	-	10	1327	c.1263G>A	c.(1261-1263)cgG>cgA	p.R421R		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	421	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCGAGGCGTTCCGTCCAGTTT	0.512000													29	85					0	0	0.002096	0	0
CACNG4	27092	broad.mit.edu	37	17	65020989	65020989	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:65020989C>T	ENST00000262138.3	+	3	320	c.318C>T	c.(316-318)gcC>gcT	p.A106A		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	106					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCGTGCGAGCCTCCAGCGTCT	0.637000													65	78					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	71015453	71015453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:71015453G>A	ENST00000393567.2	-	29	4501	c.4351C>T	c.(4351-4353)Caa>Taa	p.Q1451*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1451										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCTGCTCTTGATGTGAACTG	0.408000													50	43					0	0	0.003610	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964217	88964217	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:88964217C>A	ENST00000333190.4	+	4	2530	c.1921C>A	c.(1921-1923)Ccc>Acc	p.P641T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	641						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAATTGATTCCCTGCAGTCC	0.428000										HNSCC(36;0.09)			29	13					3.80469e-20	4.51404e-20	0.001786	1	0
CHERP	10523	broad.mit.edu	37	19	16632418	16632418	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:16632418G>A	ENST00000546361.2	-	12	2179	c.2028C>T	c.(2026-2028)ctC>ctT	p.L676L	CHERP_ENST00000198939.6_Silent_p.L687L|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	676	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TGGGGGGTGGGAGGCGGATGT	0.652000													20	24					0	0	0.001882	0	0
CEL	1056	broad.mit.edu	37	9	135942234	135942234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:135942234C>T	ENST00000372080.4	+	6	704	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S	CEL_ENST00000351304.7_Missense_Mutation_p.P227S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	227					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GACCCTCTCCCCCTACAACAA	0.642000													64	18					0	0	0.003610	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999878	46999878	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:46999878A>G	ENST00000374314.4	+	1	1953	c.998A>G	c.(997-999)cAg>cGg	p.Q333R	GPRIN2_ENST00000374317.1_Missense_Mutation_p.Q333R			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	333										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTGTCAGCCCAGGATGCTGGT	0.642000													21	27					0	0	0.001882	0	0
HSPH1	10808	broad.mit.edu	37	13	31722162	31722162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:31722162C>T	ENST00000320027.5	-	10	1656	c.1312G>A	c.(1312-1314)Ggg>Agg	p.G438R	HSPH1_ENST00000445273.2_Missense_Mutation_p.G440R|HSPH1_ENST00000429785.2_Missense_Mutation_p.G257R|HSPH1_ENST00000380405.4_Missense_Mutation_p.G438R|HSPH1_ENST00000380406.5_Missense_Mutation_p.G397R	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	438					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCAAAAGGCCCCCTTCTCAGA	0.398000													99	131					0	0	0.003610	0	0
CPED1	79974	broad.mit.edu	37	7	120911467	120911467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:120911467G>A	ENST00000310396.5	+	22	3318	c.2851G>A	c.(2851-2853)Gga>Aga	p.G951R		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GGGGAAGTGTGGATGTCATTT	0.333000													57	34					0	0	0.003610	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21329726	21329726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:21329726G>A	ENST00000256958.2	+	5	472	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	126					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.E126*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GTATTCTAAAGAAACTAATAT	0.303000													18	38					0	0	0.007413	0	0
RCBTB2	1102	broad.mit.edu	37	13	49086897	49086897	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:49086897A>G	ENST00000344532.3	-	7	907	c.484T>C	c.(484-486)Tac>Cac	p.Y162H	RCBTB2_ENST00000544904.1_Missense_Mutation_p.Y138H|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000430805.2_Missense_Mutation_p.Y167H|RCBTB2_ENST00000544492.1_Intron	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	162							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		AAAGAATGGTAAGACCCACAG	0.398000													31	47					0	0	0.002836	0	0
PITPNM1	9600	broad.mit.edu	37	11	67267576	67267576	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:67267576G>A	ENST00000356404.3	-	6	1182	c.957C>T	c.(955-957)tcC>tcT	p.S319S	PITPNM1_ENST00000534749.1_Silent_p.S319S|PITPNM1_ENST00000436757.2_Silent_p.S319S	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	319	Poly-Ser.				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CTCCATGTTGGGATGAGTAGG	0.692000													6	51					0	0	0.001984	0	0
TBC1D4	9882	broad.mit.edu	37	13	75863150	75863150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:75863150C>T	ENST00000377636.3	-	20	3929	c.3583G>A	c.(3583-3585)Gat>Aat	p.D1195N	TBC1D4_ENST00000377625.2_Missense_Mutation_p.D1132N|TBC1D4_ENST00000425511.1_Missense_Mutation_p.D359N|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D1187N	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1195						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GTTTCACTATCCTCACAGGAA	0.398000													42	51					0	0	0.002852	0	0
MYO9B	4650	broad.mit.edu	37	19	17305746	17305746	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:17305746G>A	ENST00000595618.1	+	22	3662	c.3510G>A	c.(3508-3510)aaG>aaA	p.K1170K	MYO9B_ENST00000594824.1_Silent_p.K1170K|MYO9B_ENST00000397274.2_Silent_p.K1170K	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1170	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGTCCTGCAAGGAGGAGAGTG	0.562000													17	40					0	0	0.001882	0	0
SRRM1	10250	broad.mit.edu	37	1	24989168	24989168	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:24989168T>C	ENST00000323848.9	+	12	1816	c.1501T>C	c.(1501-1503)Tcc>Ccc	p.S501P	SRRM1_ENST00000374389.4_Missense_Mutation_p.S496P|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S499P	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	501	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CTCCTCCTCCTCCTCAGAAGA	0.458000													16	27					0	0	0.004990	0	0
MUSK	4593	broad.mit.edu	37	9	113547266	113547266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:113547266G>A	ENST00000416899.2	+	10	1658	c.1532G>A	c.(1531-1533)cGa>cAa	p.R511Q	MUSK_ENST00000374438.1_Intron|MUSK_ENST00000189978.5_Missense_Mutation_p.R519Q|MUSK_ENST00000374448.4_Missense_Mutation_p.R519Q			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	519					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R519Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TATTGCTGCCGAAGAAGAAAA	0.358000													27	51					0	0	0.008361	0	0
PTH2R	5746	broad.mit.edu	37	2	209358274	209358274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:209358274G>A	ENST00000272847.2	+	13	1756	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	515						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GGAGACCAAGGAAGATAGTGG	0.522000													26	26					0	0	0.004656	0	0
OR5L2	26338	broad.mit.edu	37	11	55594730	55594730	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:55594730C>T	ENST00000378397.1	+	1	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGGCTGAGTTCATTCTCCTTG	0.433000										HNSCC(27;0.073)			74	135					0	0	0.003610	0	0
LAMA3	3909	broad.mit.edu	37	18	21330936	21330936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:21330936C>T	ENST00000313654.9	+	5	980	c.739C>T	c.(739-741)Cac>Tac	p.H247Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.H247Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	247	Laminin N-terminal.				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)	TACTTTCTCTCACACCCTGAG	0.448000													49	43					0	0	0.003610	0	0
UNC13D	201294	broad.mit.edu	37	17	73827385	73827385	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:73827385T>A	ENST00000207549.4	-	26	2871	c.2492A>T	c.(2491-2493)gAg>gTg	p.E831V	UNC13D_ENST00000412096.2_Missense_Mutation_p.E831V	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	831	MHD2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGGCCGCCTCCACCAGCAC	0.662000									Familial Hemophagocytic Lymphohistiocytosis				10	45					0	0	0.008291	0	0
MC5R	4161	broad.mit.edu	37	18	13826521	13826521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:13826521C>T	ENST00000324750.3	+	1	979	c.757C>T	c.(757-759)Ccg>Tcg	p.P253S		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	253					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GTGCTGGGCCCCGTTCTTCCT	0.577000													31	121					0	0	0.007291	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748831	43748831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:43748831G>A	ENST00000263801.3	-	12	2212	c.1960C>T	c.(1960-1962)Cat>Tat	p.H654Y	TP53BP1_ENST00000450115.2_Missense_Mutation_p.H659Y|TP53BP1_ENST00000382039.3_Missense_Mutation_p.H659Y|TP53BP1_ENST00000382044.4_Missense_Mutation_p.H659Y	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	654					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCTCTGGATGGTGTTCTTTA	0.473000								Other conserved DNA damage response genes					24	92					0	0	0.003954	0	0
ZNF318	24149	broad.mit.edu	37	6	43325409	43325409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:43325409G>A	ENST00000361428.2	-	3	720	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	ZNF318_ENST00000318149.3_Missense_Mutation_p.P215S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	215					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCAAGAAGGGACTGAGAGGC	0.493000													64	79					0	0	0.003610	0	0
SGCZ	137868	broad.mit.edu	37	8	14412356	14412356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:14412356C>T	ENST00000382080.1	-	2	834	c.119G>A	c.(118-120)gGa>gAa	p.G40E	SGCZ_ENST00000421524.2_Missense_Mutation_p.G27E	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	27					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCCATAAATTCCCACTGGGTA	0.383000													24	110					0	0	0.004656	0	0
RHOH	399	broad.mit.edu	37	4	40245215	40245215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:40245215C>T	ENST00000381799.4	+	3	933	c.209C>T	c.(208-210)cCc>cTc	p.P70L	RHOH_ENST00000505618.1_Missense_Mutation_p.P70L	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	70					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						AGCATCCGGCCCCTGTCCTAC	0.547000													28	22					0	0	0.008361	0	0
EPHB3	2049	broad.mit.edu	37	3	184299085	184299085	+	Missense_Mutation	SNP	C	C	T	rs143430250	byFrequency	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:184299085C>T	ENST00000330394.2	+	15	3229	c.2777C>T	c.(2776-2778)aCc>aTc	p.T926I	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	926	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GATTACACAACCTTCACGACA	0.562000													49	48					0	0	0.003610	0	0
ELMO1	9844	broad.mit.edu	37	7	37272719	37272719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:37272719G>A	ENST00000310758.4	-	8	1177	c.530C>T	c.(529-531)tCg>tTg	p.S177L	ELMO1_ENST00000448602.1_Missense_Mutation_p.S177L|ELMO1_ENST00000442504.1_Missense_Mutation_p.S177L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	177					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAACGCCACCGAAAATGTATC	0.463000													23	49					0	0	0.006320	0	0
DENND3	22898	broad.mit.edu	37	8	142176349	142176349	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:142176349G>A	ENST00000519811.1	+	12	1684	c.1614G>A	c.(1612-1614)aaG>aaA	p.K538K	DENND3_ENST00000424248.1_Silent_p.K406K|DENND3_ENST00000262585.2_Silent_p.K458K			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	458										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCCGGAAGTCCTCGCACC	0.542000													43	118					0	0	0.002522	0	0
RPS19	6223	broad.mit.edu	37	19	42373237	42373237	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:42373237C>T	ENST00000598742.1	+	4	681	c.309C>T	c.(307-309)gtC>gtT	p.V103V	RPS19_ENST00000593863.1_Silent_p.V103V|RPS19_ENST00000221975.2_Silent_p.V29V	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	103					endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						CCCGCCGGGTCCTCCAAGCCC	0.607000									Diamond-Blackfan Anemia				8	29					0	0	0.004482	0	0
ADA	100	broad.mit.edu	37	20	43251473	43251473	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:43251473G>A	ENST00000372874.4	-	8	911	c.777C>T	c.(775-777)ttC>ttT	p.F259F	ADA_ENST00000537820.1_Silent_p.F235F|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	259					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CGCTTACCTCGAAGTGCATGT	0.602000									Adenosine Deaminase Deficiency				72	99					0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113318250	113318250	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:113318250G>T	ENST00000297405.5	-	51	8301	c.8057C>A	c.(8056-8058)aCc>aAc	p.T2686N	CSMD3_ENST00000352409.3_Missense_Mutation_p.T2616N|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2582N|CSMD3_ENST00000343508.3_Missense_Mutation_p.T2646N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2686	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACAGCGAGGGGTCTTGTTATG	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			53	40					7.10676e-39	8.48569e-39	0.003610	1	0
GNA15	2769	broad.mit.edu	37	19	3155863	3155863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:3155863G>A	ENST00000262958.3	+	5	915	c.657G>A	c.(655-657)tgG>tgA	p.W219*		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	219					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GTAAGAAATGGATCCATTGTT	0.597000													16	23					0	0	0.004990	0	0
CHD2	1106	broad.mit.edu	37	15	93567672	93567672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:93567672C>T	ENST00000394196.4	+	39	6292	c.5224C>T	c.(5224-5226)Cga>Tga	p.R1742*		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1742					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCAGGATTTCCGACGAATGTC	0.493000													24	29					0	0	0.004656	0	0
FBN3	84467	broad.mit.edu	37	19	8174214	8174214	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:8174214G>A	ENST00000600128.1	-	36	4929	c.4515C>T	c.(4513-4515)tcC>tcT	p.S1505S	FBN3_ENST00000601739.1_Silent_p.S1505S|FBN3_ENST00000270509.2_Silent_p.S1505S			Q75N90	FBN3_HUMAN	fibrillin 3	1505	TB 6.					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						CGGCACTGCAGGAAATGCCAC	0.602000													31	27					0	0	0.002445	0	0
UGT2B4	7363	broad.mit.edu	37	4	70351018	70351018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:70351018C>T	ENST00000305107.6	-	5	1264	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.M270I|UGT2B4_ENST00000512583.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	406					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCTTGGCCTTCATGTGTGCAA	0.448000													87	126					0	0	0.003610	0	0
ROBO2	6092	broad.mit.edu	37	3	77612324	77612324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:77612324G>A	ENST00000461745.1	+	11	2426	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E	ROBO2_ENST00000332191.8_Missense_Mutation_p.G509E|ROBO2_ENST00000487694.3_Missense_Mutation_p.G525E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	509					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)		ATAGAGTCTGGAGCAACAATC	0.433000													14	23					0	0	0.001855	0	0
SPAG17	200162	broad.mit.edu	37	1	118570995	118570995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:118570995G>A	ENST00000336338.5	-	26	3697	c.3632C>T	c.(3631-3633)cCt>cTt	p.P1211L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1211						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTGTAAAACAGGTTCTGGTTC	0.398000													35	67					0	0	0.005524	0	0
BMP15	9210	broad.mit.edu	37	X	50659473	50659473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:50659473G>A	ENST00000252677.3	+	2	1045	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	349					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCAGTTGGTGGACCAGAGTGT	0.463000													54	5					0	0	0.003610	0	0
CACNA1I	8911	broad.mit.edu	37	22	40064311	40064311	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:40064311C>T	ENST00000336649.4	+	27	4137	c.4137C>T	c.(4135-4137)ctC>ctT	p.L1379L	CACNA1I_ENST00000407673.1_Silent_p.L1338L|CACNA1I_ENST00000404898.1_Silent_p.L1338L|CACNA1I_ENST00000400164.3_Silent_p.L1338L|CACNA1I_ENST00000401624.1_Silent_p.L1373L|CACNA1I_ENST00000402142.3_Silent_p.L1373L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1373					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGATGTCCCTCTTTGTCCTGG	0.572000													18	25					0	0	0.001882	0	0
PAX4	5078	broad.mit.edu	37	7	127254549	127254549	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:127254549C>T	ENST00000341640.2	-	3	604	c.399G>A	c.(397-399)cgG>cgA	p.R133R	PAX4_ENST00000378740.2_Silent_p.R133R|PAX4_ENST00000463946.1_Silent_p.R131R|PAX4_ENST00000338516.3_Silent_p.R141R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	141					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GTGACCTGAGCCGTGTGCACG	0.542000													4	9					0	0	0.000248	0	0
MAP3K4	4216	broad.mit.edu	37	6	161523006	161523006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:161523006C>T	ENST00000392142.4	+	18	3905	c.3757C>T	c.(3757-3759)Ccc>Tcc	p.P1253S	MAP3K4_ENST00000348824.7_Missense_Mutation_p.P1199S|MAP3K4_ENST00000366920.2_Missense_Mutation_p.P1249S|MAP3K4_ENST00000366919.2_Missense_Mutation_p.P1203S	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1253					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCACTCAAGCCCCACGGAGGA	0.438000													18	7					0	0	0.007413	0	0
AGTR1	185	broad.mit.edu	37	3	148459398	148459398	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:148459398G>A	ENST00000542281.1	+	4	1022	c.576G>A	c.(574-576)ccG>ccA	p.P192P	AGTR1_ENST00000474935.1_Silent_p.P192P|AGTR1_ENST00000404754.2_Silent_p.P192P|AGTR1_ENST00000497524.1_Silent_p.P192P|AGTR1_ENST00000475347.1_Silent_p.P192P|AGTR1_ENST00000349243.3_Silent_p.P192P|AGTR1_ENST00000461609.1_Silent_p.P192P|AGTR1_ENST00000402260.1_Silent_p.P192P|AGTR1_ENST00000418473.2_Silent_p.P192P	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	192					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CAACCCTCCCGATAGGGCTGG	0.393000													29	32					0	0	0.007291	0	0
HECW2	57520	broad.mit.edu	37	2	197189781	197189781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:197189781G>A	ENST00000260983.2	-	6	846	c.664C>T	c.(664-666)Ccc>Tcc	p.P222S	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	222	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCACAGGTGGGGAAACTGCTC	0.488000													57	155					0	0	0.003610	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425175	71425175	+	Missense_Mutation	SNP	C	C	T	rs78660817		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:71425175C>T	ENST00000373657.1	-	3	3675	c.3073G>A	c.(3073-3075)Gga>Aga	p.G1025R	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.G1148R			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1148					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGTGTTTCTCCGGAAGGATCC	0.502000													43	6					0	0	0.008740	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008944	88008944	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:88008944T>C	ENST00000276127.4	+	3	788	c.529T>C	c.(529-531)Tat>Cat	p.Y177H	CPXCR1_ENST00000373111.1_Missense_Mutation_p.Y177H	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	177						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AAAGCGAAAATATATAGCATG	0.428000													17	13					0	0	0.006122	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849092	26849092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:26849092G>A	ENST00000376236.4	+	12	1669	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	405	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GATGACACAAGAACCCTTAAC	0.483000													33	58					0	0	0.003755	0	0
INHBE	83729	broad.mit.edu	37	12	57850391	57850391	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:57850391C>T	ENST00000266646.2	+	2	1029	c.813C>T	c.(811-813)taC>taT	p.Y271Y	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	271					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCGAGGGGTACCAGCTGAATT	0.602000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	72					0	0	0.004656	0	0
IGSF21	84966	broad.mit.edu	37	1	18703426	18703426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:18703426C>T	ENST00000251296.1	+	8	1617	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	412	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CTCCATGTATCGCTGCACCGC	0.657000													12	22					0	0	0.003163	0	0
FGFBP2	83888	broad.mit.edu	37	4	15964408	15964408	+	Silent	SNP	G	G	A	rs141225215		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:15964408G>A	ENST00000259989.6	-	1	451	c.345C>T	c.(343-345)tcC>tcT	p.S115S	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	115						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCCTGCACACGGATGGCCTAA	0.647000													19	54					0	0	0.008871	0	0
OR5M9	390162	broad.mit.edu	37	11	56230507	56230507	+	Missense_Mutation	SNP	C	C	T	rs138157356	by1000genomes	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:56230507C>T	ENST00000279791.1	-	1	370	c.371G>A	c.(370-372)gGc>gAc	p.G124D		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	124					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)					AGGGTTGCAGCCGGCCATGTA	0.493000													29	51					0	0	0.001786	0	0
PCOLCE	5118	broad.mit.edu	37	7	100200132	100200132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:100200132C>T	ENST00000223061.5	+	1	333	c.53C>T	c.(52-54)gCc>gTc	p.A18V	PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	18					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTGCCTGCGCCCTGCTGCCT	0.642000													70	38					0	0	0.003610	0	0
GPR116	221395	broad.mit.edu	37	6	46847774	46847774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:46847774C>T	ENST00000283296.7	-	9	1105	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	GPR116_ENST00000362015.4_Missense_Mutation_p.E273K|GPR116_ENST00000456426.2_Intron|GPR116_ENST00000265417.7_Missense_Mutation_p.E273K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	273	Ig-like 1.|SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAATTGCTTTCATCTGGAAAC	0.423000													9	32					0	0	0.006214	0	0
MTRF1	9617	broad.mit.edu	37	13	41797453	41797453	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:41797453T>A	ENST00000379480.4	-	9	1263	c.1163A>T	c.(1162-1164)tAt>tTt	p.Y388F	MTRF1_ENST00000430347.2_Missense_Mutation_p.Y401F|MTRF1_ENST00000379477.1_Missense_Mutation_p.Y388F	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	388					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		GGTGAAATTATATGTCCGAAT	0.368000													49	132					0	0	0.003610	0	0
CFHR4	10877	broad.mit.edu	37	1	196871568	196871568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:196871568C>T	ENST00000367416.2	+	2	213	c.76C>T	c.(76-78)Cca>Tca	p.P26S	CFHR4_ENST00000251424.4_Missense_Mutation_p.P27S|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TTGTGATTTTCCAGAAATTCA	0.279000													44	45					0	0	0.003610	0	0
PRMT2	3275	broad.mit.edu	37	21	48064319	48064319	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr21:48064319C>T	ENST00000397637.1	+	4	1200	c.246C>T	c.(244-246)aaC>aaT	p.N82N	PRMT2_ENST00000458387.2_Silent_p.N82N|PRMT2_ENST00000397638.2_Silent_p.N82N|PRMT2_ENST00000291705.6_Silent_p.N82N|PRMT2_ENST00000334494.4_Silent_p.N82N|PRMT2_ENST00000451211.2_Silent_p.N82N|PRMT2_ENST00000440086.1_Silent_p.N82N|PRMT2_ENST00000355680.3_Silent_p.N82N|PRMT2_ENST00000397628.1_Silent_p.N82N			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	82	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TTCCGGCAAACCATGTGGGGA	0.507000													56	21					0	0	0.003610	0	0
NEFM	4741	broad.mit.edu	37	8	24775166	24775166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:24775166G>A	ENST00000221166.5	+	3	2580	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K	NEFM_ENST00000437366.2_Missense_Mutation_p.E600K|NEFM_ENST00000433454.2_Missense_Mutation_p.E224K|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	600	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TACCAAGGAGGAGCTGGTGGC	0.502000													20	15					0	0	0.001523	0	0
TLL1	7092	broad.mit.edu	37	4	167012280	167012280	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:167012280G>A	ENST00000061240.2	+	19	3090	c.2442_splice	c.e19-1	p.A815_splice	TLL1_ENST00000507499.1_Splice_Site_p.A838_splice	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	815	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		tttaaaaaaGGCCTTTAGTGA	0.299000													10	11					0	0	0.001855	0	0
ZNF793	390927	broad.mit.edu	37	19	38028549	38028549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:38028549G>A	ENST00000445217.1	+	4	1024	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	ZNF793_ENST00000587143.1_Missense_Mutation_p.R330Q|ZNF793_ENST00000542455.1_Missense_Mutation_p.R330Q|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R330Q(2)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTACATCGAAAAATGCAC	0.458000													9	16					0	0	0.006214	0	0
PSG9	5678	broad.mit.edu	37	19	43762266	43762266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:43762266G>A	ENST00000244293.7	-	4	1118	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	PSG9_ENST00000596730.1_Missense_Mutation_p.P258L|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	0	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ACACAGGCTGGGAATAAAAAT	0.448000													34	35					0	0	0.002096	0	0
SLC5A10	125206	broad.mit.edu	37	17	18923669	18923669	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:18923669C>T	ENST00000317977.6	+	15	2197	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	SLC5A10_ENST00000417251.2_Silent_p.F536F|SLC5A10_ENST00000395642.1_Silent_p.F542F|SLC5A10_ENST00000395645.3_Silent_p.F572F|SLC5A10_ENST00000395643.2_Silent_p.F545F|SLC5A10_ENST00000395647.2_Silent_p.F588F			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	572					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						AACACGCCTTCTGGGCCCGTG	0.542000													56	42					0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26422964	26422964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:26422964G>A	ENST00000335473.7	+	43	7274	c.7024G>A	c.(7024-7026)Gaa>Aaa	p.E2342K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E2343K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2342K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2342						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTACTCCCCGAAAAGTCGAA	0.562000													47	57					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9085565	9085565	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:9085565T>C	ENST00000397910.4	-	1	6453	c.6250A>G	c.(6250-6252)Agt>Ggt	p.S2084G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2084	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						GTAGTTGAACTTGGGTTTGAA	0.483000													41	121					0	0	0.002522	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2585041	2585041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:2585041C>T	ENST00000397195.5	+	11	1629	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.P188L	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	393	Interaction with DCX.|Interaction with NDEL1 (By similarity).|Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AAGACGGCACCCTATGTCGTC	0.463000													4	22					0	0	0.000248	0	0
MYBPC3	4607	broad.mit.edu	37	11	47372982	47372982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:47372982C>T	ENST00000545968.1	-	2	154	c.100G>A	c.(100-102)Gag>Aag	p.E34K	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E34K|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E34K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	34					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CCTGCCCGCTCTGTCTCGGCC	0.642000													10	11					0	0	0.001855	0	0
ENO3	2027	broad.mit.edu	37	17	4859299	4859299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:4859299G>A	ENST00000323997.6	+	9	1060	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	ENO3_ENST00000518175.1_Missense_Mutation_p.G310R|ENO3_ENST00000519584.1_Missense_Mutation_p.G267R	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	310					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CTTCCTCTCGGGGGTGAACAT	0.572000													61	40					0	0	0.003610	0	0
UTP14C	9724	broad.mit.edu	37	13	52603485	52603485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:52603485C>T	ENST00000521776.2	+	2	1278	c.545C>T	c.(544-546)cCc>cTc	p.P182L	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	182					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCAAGAACTCCCCTGGAGCAG	0.532000													40	57					0	0	0.006230	0	0
PROKR2	128674	broad.mit.edu	37	20	5283198	5283198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:5283198C>T	ENST00000546004.1	-	3	889	c.643G>A	c.(643-645)Gat>Aat	p.D215N	PROKR2_ENST00000217270.3_Missense_Mutation_p.D215N			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	215						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGCTGCTGATCCACAGGCCAG	0.517000										HNSCC(71;0.22)			41	53					0	0	0.006230	0	0
RRM1	6240	broad.mit.edu	37	11	4127421	4127421	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:4127421A>G	ENST00000300738.5	+	3	458	c.254A>G	c.(253-255)aAc>aGc	p.N85S	RRM1_ENST00000423050.2_Intron	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	85	ATP-cone.				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GCTGTCTCTAACTTGCACAAA	0.408000													13	14					0	0	0.001855	0	0
NPFFR2	10886	broad.mit.edu	37	4	73003804	73003804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:73003804G>A	ENST00000308744.6	+	3	780	c.682G>A	c.(682-684)Gga>Aga	p.G228R	NPFFR2_ENST00000344413.5_Missense_Mutation_p.G116E|NPFFR2_ENST00000358749.3_Missense_Mutation_p.G126R|NPFFR2_ENST00000395999.1_Missense_Mutation_p.G129R	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	228					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ATTGGTCCAGGGAATATCTGT	0.398000													25	33					0	0	0.001786	0	0
HGD	3081	broad.mit.edu	37	3	120360465	120360465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:120360465C>T	ENST00000283871.5	-	11	1309	c.850G>A	c.(850-852)Gtt>Att	p.V284I		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	284					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GAGTTGATAACCATGAAATTC	0.502000													52	36					0	0	0.003610	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805449	106805449	+	RNA	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:106805449G>A	ENST00000438142.2	-	0	185																											TACAGGTGAGGGACAGGGTCT	0.617000													23	149					0	0	0.001786	0	0
TMEM169	92691	broad.mit.edu	37	2	216964891	216964891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:216964891C>T	ENST00000454545.1	+	4	846	c.520C>T	c.(520-522)Ctt>Ttt	p.L174F	TMEM169_ENST00000406027.2_Missense_Mutation_p.L174F|TMEM169_ENST00000295658.4_Missense_Mutation_p.L174F|TMEM169_ENST00000437356.2_Missense_Mutation_p.L174F	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	174						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTTTTCATCCTTTCTTTTGT	0.512000													51	62					0	0	0.003610	0	0
OR8K3	219473	broad.mit.edu	37	11	56086329	56086329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:56086329C>T	ENST00000312711.1	+	1	547	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGACAGTCTCCCTTTGTTACC	0.333000													38	79					0	0	0.004289	0	0
CHRDL1	91851	broad.mit.edu	37	X	109963152	109963152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:109963152C>T	ENST00000218054.4	-	6	645	c.449G>A	c.(448-450)gGa>gAa	p.G150E	CHRDL1_ENST00000444321.2_Missense_Mutation_p.G150E|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000372045.1_Missense_Mutation_p.G144E|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000394797.4_Missense_Mutation_p.G150E|CHRDL1_ENST00000372042.1_Missense_Mutation_p.G151E	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	144	VWFC 2.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ATACACGTTTCCCTCCTGCCA	0.463000													45	4					0	0	0.002222	0	0
ZC3H4	23211	broad.mit.edu	37	19	47569896	47569896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:47569896G>A	ENST00000253048.5	-	15	3666	c.3629C>T	c.(3628-3630)aCc>aTc	p.T1210I	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1210							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GTCCGTGGGGGTGCCCCCATC	0.692000													21	9					0	0	0.003954	0	0
FGB	2244	broad.mit.edu	37	4	155487143	155487143	+	Missense_Mutation	SNP	C	C	T	rs2227434	byFrequency	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:155487143C>T	ENST00000302068.4	+	2	361	c.298C>T	c.(298-300)Cca>Tca	p.P100S	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	100			Missing (in New York-1).|P -> S (in dbSNP:rs2227434).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCACGCTGACCCAGACCTGGT	0.532000													14	21					0	0	0.002450	0	0
CCDC101	112869	broad.mit.edu	37	16	28592443	28592443	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:28592443A>T	ENST00000317058.3	+	2	240	c.53A>T	c.(52-54)cAt>cTt	p.H18L		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	18					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						ACAGAGCTCCATCAGCTGATC	0.547000													15	18					0	0	0.006122	0	0
NES	10763	broad.mit.edu	37	1	156641393	156641393	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:156641393G>A	ENST00000368223.3	-	4	2719	c.2587C>T	c.(2587-2589)Cta>Tta	p.L863L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	863	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780).	brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTTTTCTAGAGGATTCATT	0.458000													22	122					0	0	0.001882	0	0
DNAH7	56171	broad.mit.edu	37	2	196799425	196799425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:196799425C>T	ENST00000312428.6	-	21	3461	c.3361G>A	c.(3361-3363)Gaa>Aaa	p.E1121K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1121	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCTCTCCTTCGCTGCTCTTC	0.403000													55	42					0	0	0.003610	0	0
DEFB116	245930	broad.mit.edu	37	20	29891167	29891167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:29891167C>T	ENST00000400549.1	-	2	156	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	53					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTTCATATTCTCTGCAGGCG	0.448000													60	186					0	0	0.003610	0	0
ETV1	2115	broad.mit.edu	37	7	13935631	13935631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:13935631G>A	ENST00000343495.5	-	13	1978	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S	ETV1_ENST00000430479.1_Missense_Mutation_p.P432S|ETV1_ENST00000405192.2_Missense_Mutation_p.P409S|ETV1_ENST00000405358.4_Missense_Mutation_p.P446S|ETV1_ENST00000403685.1_Missense_Mutation_p.P414S|ETV1_ENST00000405218.2_Missense_Mutation_p.P432S|ETV1_ENST00000242066.5_Missense_Mutation_p.P414S|ETV1_ENST00000403527.1_Missense_Mutation_p.P392S|ETV1_ENST00000399357.3_Missense_Mutation_p.P329S|ETV1_ENST00000420159.2_Missense_Mutation_p.P374S			P50549	ETV1_HUMAN	ets variant 1	432					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCAGCAGTGGACGCTGATTA	0.498000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								25	20					0	0	0.003330	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032542	43032542	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:43032542G>A	ENST00000399770.2	+	4	858	c.858G>A	c.(856-858)aaG>aaA	p.K286K		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	286					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGCGTTGTAAGAACTGTGCTG	0.378000													56	90					0	0	0.003610	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37421200	37421200	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:37421200G>A	ENST00000374660.1	+	4	474	c.375G>A	c.(373-375)acG>acA	p.T125T	ANKRD30A_ENST00000361713.1_Silent_p.T125T|ANKRD30A_ENST00000602533.1_Silent_p.T125T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	181						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.T125T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATCCATAACGAAAAGAAGTG	0.284000													36	12					0	0	0.002852	0	0
SNHG14	104472715	broad.mit.edu	37	15	25310191	25310191	+	RNA	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:25310191C>T	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA																							GATGAGTCCTCCAAAAAAAAC	0.483000													21	53					0	0	0.004656	0	0
TENM2	57451	broad.mit.edu	37	5	167551955	167551955	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:167551955G>A	ENST00000519204.1	+	10	1864	c.1746G>A	c.(1744-1746)agG>agA	p.R582R	TENM2_ENST00000520394.1_Silent_p.R471R|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Silent_p.R536R|TENM2_ENST00000545108.1_Silent_p.R703R|TENM2_ENST00000518659.1_Silent_p.R703R					teneurin transmembrane protein 2																		AGCTGGCGAGGGTCCAGTGCC	0.617000													7	13					0	0	0.001984	0	0
ITIH4	3700	broad.mit.edu	37	3	52852126	52852126	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:52852126G>A	ENST00000266041.4	-	20	2334	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L	ITIH4_ENST00000485816.1_Silent_p.L751L|ITIH4_ENST00000406595.1_Silent_p.L716L|ITIH4_ENST00000346281.5_Silent_p.L730L	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	746					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGTCCACACAGAGCCGCTCCA	0.667000													33	34					0	0	0.004289	0	0
CEACAM5	1048	broad.mit.edu	37	19	42225069	42225069	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:42225069T>C	ENST00000221992.6	+	8	2113	c.1999T>C	c.(1999-2001)Tcc>Ccc	p.S667P	CEACAM5_ENST00000405816.1_Missense_Mutation_p.S667P|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S666P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	667	Ig-like 7.					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)		CCGCAATAATTCCATAGTCAA	0.468000													16	48					0	0	0.004990	0	0
ERC2	26059	broad.mit.edu	37	3	55922539	55922539	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:55922539C>T	ENST00000288221.6	-	14	2697	c.2442G>A	c.(2440-2442)caG>caA	p.Q814Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	814						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.Q814H(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CATCCAGTTCCTGTCTGGTCT	0.517000													48	123					0	0	0.003610	0	0
ELF5	2001	broad.mit.edu	37	11	34533099	34533099	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:34533099G>A	ENST00000312319.2	-	1	247	c.18C>T	c.(16-18)caC>caT	p.H6H	ELF5_ENST00000532417.1_Intron|ELF5_ENST00000429939.2_Intron|ELF5_ENST00000257832.2_Intron|ELF5_ENST00000528709.1_5'UTR	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	6					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				ACCTGTGGGAGTGAGGCAGAG	0.522000													12	51					0	0	0.001368	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387343	56387343	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:56387343C>T	ENST00000355701.3	-	21	4746	c.3876G>A	c.(3874-3876)agG>agA	p.R1292R	BZRAP1_ENST00000343736.4_Silent_p.R1292R|BZRAP1_ENST00000268893.6_Silent_p.R1232R	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1292						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCATTCTCCCTGATGCTGT	0.612000													30	45					0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179647604	179647604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:179647604C>T	ENST00000589042.1	-	18	3253	c.3029G>A	c.(3028-3030)aGc>aAc	p.S1010N	TTN_ENST00000360870.5_Missense_Mutation_p.S1010N|TTN_ENST00000591111.1_Missense_Mutation_p.S1010N|TTN_ENST00000460472.2_Missense_Mutation_p.S964N|TTN_ENST00000342175.6_Missense_Mutation_p.S964N|TTN_ENST00000359218.5_Missense_Mutation_p.S964N|TTN_ENST00000342992.6_Missense_Mutation_p.S1010N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1010	Ig-like 3.						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)			AAATCGCCCGCTGTCTTCCGC	0.498000													29	27					0	0	0.008361	0	0
COL5A1	1289	broad.mit.edu	37	9	137707437	137707437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:137707437C>T	ENST00000371817.3	+	51	4444	c.4030C>T	c.(4030-4032)Cct>Tct	p.P1344S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1344	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P1344S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGTGGGTTTTCCTGGAGATCC	0.622000													9	2					0	0	0.008291	0	0
ADAM7	8756	broad.mit.edu	37	8	24342831	24342831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:24342831C>T	ENST00000175238.6	+	10	1000	c.917C>T	c.(916-918)cCa>cTa	p.P306L	ADAM7_ENST00000380789.1_Missense_Mutation_p.P306L|ADAM7_ENST00000520720.1_Missense_Mutation_p.P78L|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	306	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATTTCTTATCCAGGGGGTATG	0.338000													15	60					0	0	0.001882	0	0
OR11G2	390439	broad.mit.edu	37	14	20665683	20665683	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:20665683C>T	ENST00000357366.3	+	1	189	c.189C>T	c.(187-189)atC>atT	p.I63I		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGGGGCAGATCCTCCTCTTTG	0.552000													15	37					0	0	0.002450	0	0
PKD1L1	168507	broad.mit.edu	37	7	47913522	47913522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:47913522C>T	ENST00000289672.2	-	24	3921	c.3871G>A	c.(3871-3873)Gga>Aga	p.G1291R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1291	REJ.				cell-cell adhesion	integral to membrane		p.G1291R(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGTCATTTCCATGGTAGCGG	0.517000													8	62					0	0	0.004482	0	0
OR2W3	343171	broad.mit.edu	37	1	248059058	248059058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:248059058C>T	ENST00000537741.1	+	3	427	c.170C>T	c.(169-171)aCc>aTc	p.T57I	OR2W3_ENST00000360358.3_Missense_Mutation_p.T57I			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACCTCCACACCCCCATGTAC	0.572000													83	153					0	0	0.003610	0	0
TNR	7143	broad.mit.edu	37	1	175375715	175375715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:175375715C>T	ENST00000367674.1	-	3	844	c.136G>A	c.(136-138)Gag>Aag	p.E46K	TNR_ENST00000263525.2_Missense_Mutation_p.E46K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	46					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCTCCTCCTCCACTGACTGT	0.527000													98	61					0	0	0.003610	0	0
TLR6	10333	broad.mit.edu	37	4	38829400	38829400	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:38829400T>A	ENST00000436693.2	-	2	1814	c.1695A>T	c.(1693-1695)gaA>gaT	p.E565D	TLR6_ENST00000381950.1_Missense_Mutation_p.E565D	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	565	LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTATAACTTTCTGGGTAGT	0.428000													70	89					0	0	0.003610	0	0
PRLR	5618	broad.mit.edu	37	5	35084649	35084649	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:35084649T>G	ENST00000382002.5	-	5	722	c.296A>C	c.(295-297)tAc>tCc	p.Y99S	PRLR_ENST00000310101.5_Missense_Mutation_p.Y99S|PRLR_ENST00000348262.3_Missense_Mutation_p.Y99S|PRLR_ENST00000231423.3_Missense_Mutation_p.Y99S|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.Y99S|PRLR_ENST00000397391.3_Missense_Mutation_p.Y28S|PRLR_ENST00000513753.1_Missense_Mutation_p.Y99S|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000511486.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	99	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CATCATGATGTATGTCCTCCA	0.483000													72	63					0	0	0.003610	0	0
SUPT6H	6830	broad.mit.edu	37	17	27003316	27003316	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:27003316C>T	ENST00000314616.6	+	7	1048	c.765C>T	c.(763-765)ccC>ccT	p.P255P	SUPT6H_ENST00000347486.4_Silent_p.P255P	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	255					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAGTGCGCCCCAAGAAGACCA	0.458000													18	70					0	0	0.007413	0	0
OXA1L	5018	broad.mit.edu	37	14	23235902	23235902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:23235902C>T	ENST00000285848.5	+	1	172	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	OXA1L_ENST00000604262.1_5'UTR	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	p.P58S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AAGTCCTCTTCCGGGCAAAAT	0.607000													35	96					0	0	0.004878	0	0
LSM10	84967	broad.mit.edu	37	1	36859377	36859377	+	Silent	SNP	G	G	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:36859377G>C	ENST00000315732.2	-	2	503	c.354C>G	c.(352-354)ccC>ccG	p.P118P	LSM10_ENST00000476041.1_5'UTR	NM_032881.1	NP_116270.1	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	118					histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				AGTTTTTTGGGGGAAATTCCC	0.572000													30	74					0	0	0.002096	0	0
TTC27	55622	broad.mit.edu	37	2	32875264	32875264	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:32875264C>T	ENST00000317907.4	+	5	835	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	202							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ACGCTCACCTCTGCTTTTTAC	0.398000													27	78					0	0	0.006320	0	0
POU2F3	25833	broad.mit.edu	37	11	120175804	120175804	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:120175804C>T	ENST00000260264.4	+	7	550	c.516C>T	c.(514-516)ctC>ctT	p.L172L	POU2F3_ENST00000543440.2_Silent_p.L170L	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	170					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CCCAGCATCTCCCAGTGCCCA	0.577000													34	14					0	0	0.002836	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808428	18808428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:18808428C>T	ENST00000400664.1	+	1	1005	c.953C>T	c.(952-954)tCc>tTc	p.S318F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	318						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGTTCCATCCCCTAGGCCA	0.637000													24	32					0	0	0.002299	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814923	106814923	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:106814923C>T	ENST00000407775.2	+	8	2863	c.2613C>T	c.(2611-2613)gcC>gcT	p.A871A	ZFPM2_ENST00000520492.1_Silent_p.A739A|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.A739A|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.A602A|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	871					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACTATCTGGCCCACAAGCAGA	0.507000													9	19					0	0	0.004482	0	0
EIF3F	8665	broad.mit.edu	37	11	8008857	8008857	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:8008857G>A	ENST00000537635.1	+	1	421	c.3G>A	c.(1-3)atG>atA	p.M1I	EIF3F_ENST00000533626.1_5'UTR			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	0						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGATATTCATGAATGCTGTCA	0.522000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	113	154					0	0	0.003610	0	0
POTEC	388468	broad.mit.edu	37	18	14542924	14542924	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:14542924C>T	ENST00000358970.5	-	1	221	c.222G>A	c.(220-222)ggG>ggA	p.G74G	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	74										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCGTGCCGCTCCCCCTGCAGC	0.567000													16	282					0	0	0.007413	0	0
NUTM1	256646	broad.mit.edu	37	15	34649449	34649449	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:34649449C>T	ENST00000537011.1	+	8	3622	c.3240C>T	c.(3238-3240)tcC>tcT	p.S1080S	NUTM1_ENST00000438749.3_Silent_p.S1070S|NUTM1_ENST00000333756.4_Silent_p.S1052S					NUT midline carcinoma, family member 1																		AGAGAGCATCCCACCTGCTCC	0.567000													10	30					0	0	0.000978	0	0
TRIT1	54802	broad.mit.edu	37	1	40315913	40315913	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:40315913T>C	ENST00000316891.5	-	5	595	c.581A>G	c.(580-582)gAa>gGa	p.E194G	TRIT1_ENST00000372818.1_Missense_Mutation_p.E194G|TRIT1_ENST00000441669.2_Missense_Mutation_p.E114G|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	194					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GATTCCTGTTTCTTCAAAAAC	0.423000													12	35					0	0	0.004007	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143924	55143924	+	Missense_Mutation	SNP	C	C	T	rs3745073		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:55143924C>T	ENST00000491143.2	+	2	1516	c.1484C>T	c.(1483-1485)tCg>tTg	p.S495L		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	495					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GGGGGCTCCTCGTCCACCTCC	0.557000													7	38					0	0	0.003080	0	0
C12orf56	115749	broad.mit.edu	37	12	64668753	64668753	+	Silent	SNP	T	T	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:64668753T>A	ENST00000543942.2	-	11	2138	c.1512A>T	c.(1510-1512)ggA>ggT	p.G504G	C12orf56_ENST00000333722.5_Silent_p.G344G|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	507										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ATCCGAGATTTCCCTAAAAGA	0.328000													31	59					0	0	0.002445	0	0
OAS1	4938	broad.mit.edu	37	12	113344864	113344864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:113344864C>T	ENST00000452357.2	+	1	210	c.20C>T	c.(19-21)aCc>aTc	p.T7I	OAS1_ENST00000553185.1_Missense_Mutation_p.T7I|OAS1_ENST00000202917.5_Missense_Mutation_p.T7I|OAS1_ENST00000445409.2_Missense_Mutation_p.T7I|OAS1_ENST00000551241.1_Missense_Mutation_p.T7I	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	7					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CTCAGAAATACCCCAGCCAAA	0.473000													30	63					0	0	0.003271	0	0
ACVR1C	130399	broad.mit.edu	37	2	158406693	158406693	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:158406693G>A	ENST00000243349.7	-	4	1116	c.756C>T	c.(754-756)ttC>ttT	p.F252F	ACVR1C_ENST00000335450.7_Silent_p.F172F|ACVR1C_ENST00000409680.3_Silent_p.F202F|ACVR1C_ENST00000348328.5_Intron	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	252	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CAGCAGCAATGAAACCAAGGA	0.388000													26	45					0	0	0.007291	0	0
MAGI3	260425	broad.mit.edu	37	1	114165440	114165440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:114165440C>T	ENST00000369615.1	+	9	1246	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L	MAGI3_ENST00000307546.9_Missense_Mutation_p.S395L|MAGI3_ENST00000369617.4_Missense_Mutation_p.S420L|MAGI3_ENST00000369611.4_Missense_Mutation_p.S395L	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	420					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGAAAAATCACACTTCACA	0.343000													13	34					0	0	0.004990	0	0
IMPG1	3617	broad.mit.edu	37	6	76712689	76712689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:76712689G>A	ENST00000369950.3	-	12	1426	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	413					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)				TCAACAGGAGGAAGTTCTGGA	0.423000													24	31					0	0	0.005443	0	0
FAM194A	131831	broad.mit.edu	37	3	150384765	150384765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:150384765G>A	ENST00000295910.6	-	13	1589	c.1537C>T	c.(1537-1539)Caa>Taa	p.Q513*	FAM194A_ENST00000491361.1_Nonsense_Mutation_p.Q367*	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	513										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTGCCGGCTTGATCTGAATAT	0.368000													62	43					0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176675538	176675538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:176675538G>A	ENST00000367662.3	+	10	4573	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1137					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGAGCGGAGATGGCTGCTC	0.408000													37	17					0	0	0.002522	0	0
EEF2K	29904	broad.mit.edu	37	16	22262007	22262007	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:22262007C>T	ENST00000263026.5	+	5	915	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	147	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GGGAGTGCTTCCGGACGTAAG	0.587000													26	36					0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179615421	179615421	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:179615421C>T	ENST00000360870.5	-	46	11928	c.11706G>A	c.(11704-11706)aaG>aaA	p.K3902K	TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9723							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)			TCAAATCATCCTTTTTTATTC	0.328000													26	23					0	0	0.003330	0	0
CSE1L	1434	broad.mit.edu	37	20	47707330	47707330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:47707330C>T	ENST00000262982.2	+	20	2356	c.2233C>T	c.(2233-2235)Cac>Tac	p.H745Y	CSE1L_ENST00000542325.1_Missense_Mutation_p.H528Y|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Missense_Mutation_p.H689Y	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	745					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGCAAATGACCACCAAGGTTT	0.363000													37	58					0	0	0.004878	0	0
PROM2	150696	broad.mit.edu	37	2	95954256	95954256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:95954256G>A	ENST00000317620.9	+	22	2493	c.2360G>A	c.(2359-2361)tGg>tAg	p.W787*	PROM2_ENST00000317668.4_Nonsense_Mutation_p.W787*|PROM2_ENST00000542147.1_Nonsense_Mutation_p.W738*|PROM2_ENST00000403131.2_Nonsense_Mutation_p.W787*	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	787						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TGCCTGGCATGGTGCACCTTC	0.592000													19	54					0	0	0.001523	0	0
KIAA1804	84451	broad.mit.edu	37	1	233490664	233490664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:233490664G>A	ENST00000366624.3	+	4	1479	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	MLK4_ENST00000366623.3_Missense_Mutation_p.M406I	NM_032435.2	NP_115811.2																					GGGCAGTGATGACTGAGATGC	0.388000													61	55					0	0	0.003610	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147295	26147295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:26147295G>A	ENST00000331351.5	+	2	1489	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	366					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GACCCCGCCGGGGAAATGGCC	0.493000													48	49					0	0	0.003610	0	0
ZNF106	64397	broad.mit.edu	37	15	42717188	42717188	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:42717188G>A	ENST00000263805.4	-	13	5291	c.4965C>T	c.(4963-4965)ggC>ggT	p.G1655G	ZNF106_ENST00000565380.1_Silent_p.G883G|ZNF106_ENST00000565611.1_Silent_p.G840G	NM_022473.1	NP_071918.1			zinc finger protein 106																		CTGCCCGAGGGCCATGGCATT	0.473000													18	44					0	0	0.001882	0	0
ZMYM4	9202	broad.mit.edu	37	1	35824978	35824978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:35824978G>A	ENST00000314607.6	+	3	618	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ZMYM4-AS1_ENST00000432683.1_RNA|ZMYM4_ENST00000373297.2_Missense_Mutation_p.E180K	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	180					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTATGAACGTGAAAAACGGTT	0.323000													9	27					0	0	0.006214	0	0
HUS1	3364	broad.mit.edu	37	7	48018031	48018031	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:48018031T>A	ENST00000258774.5	-	3	363	c.340A>T	c.(340-342)Acg>Tcg	p.T114S	HUS1_ENST00000432325.1_Missense_Mutation_p.T93S	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	114					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ACGGAGACCGTGAGGCAGGGA	0.448000								Direct reversal of damage;Other conserved DNA damage response genes					37	46					0	0	0.003755	0	0
LPHN1	22859	broad.mit.edu	37	19	14274081	14274081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:14274081G>A	ENST00000340736.6	-	6	844	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	LPHN1_ENST00000361434.3_Missense_Mutation_p.R178C|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	183	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTCCGTGCGGTAGGGGATC	0.657000													18	32					0	0	0.004990	0	0
VGLL3	389136	broad.mit.edu	37	3	87017746	87017746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:87017746C>T	ENST00000398399.2	-	3	1294	c.931G>A	c.(931-933)Gat>Aat	p.D311N	VGLL3_ENST00000383698.3_Missense_Mutation_p.D311N	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.D311N(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TTACCTGTATCGAATCCCACG	0.393000													4	36					0	0	0.000248	0	0
TOX	9760	broad.mit.edu	37	8	59851871	59851871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:59851871G>A	ENST00000361421.1	-	3	621	c.401C>T	c.(400-402)tCc>tTc	p.S134F		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	134						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CACAGAAATGGAATTAGAAAG	0.473000													35	42					0	0	0.004878	0	0
C3	718	broad.mit.edu	37	19	6697719	6697719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:6697719C>T	ENST00000245907.6	-	20	2619	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	843					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCACCTGCTCGTTTCGAACA	0.587000													24	15					0	0	0.002780	0	0
ZP1	22917	broad.mit.edu	37	11	60637245	60637245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:60637245C>T	ENST00000278853.5	+	3	554	c.554C>T	c.(553-555)cCa>cTa	p.P185L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	185					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCACTGGACCCAGGGCACAGC	0.622000													19	32					0	0	0.006122	0	0
DNAH5	1767	broad.mit.edu	37	5	13824376	13824376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:13824376C>T	ENST00000265104.4	-	39	6615	c.6511G>A	c.(6511-6513)Gcc>Acc	p.A2171T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2171					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)					ATTGGATTGGCTCTTTTTGCT	0.443000									Kartagener syndrome				18	22					0	0	0.007413	0	0
OR4C11	219429	broad.mit.edu	37	11	55371784	55371784	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:55371784C>T	ENST00000302231.4	-	1	90	c.66G>A	c.(64-66)caG>caA	p.Q22Q		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ACACTATTTTCTGCCTCAAGG	0.398000													30	2					0	0	0.002096	0	0
ABCC9	10060	broad.mit.edu	37	12	21971126	21971126	+	Silent	SNP	C	C	T	rs140182559	byFrequency	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:21971126C>T	ENST00000261200.4	-	30	3728	c.3729G>A	c.(3727-3729)tcG>tcA	p.S1243S	ABCC9_ENST00000345162.2_Silent_p.S1207S|ABCC9_ENST00000261201.4_Silent_p.S1243S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1243	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATCCAGAATTCGAAGACCCAC	0.408000													75	126					0	0	0.003610	0	0
FYB	2533	broad.mit.edu	37	5	39134964	39134964	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:39134964C>T	ENST00000351578.6	-	8	1858	c.1668G>A	c.(1666-1668)agG>agA	p.R556R	FYB_ENST00000515010.1_Silent_p.R556R|FYB_ENST00000540520.1_Silent_p.R566R|FYB_ENST00000512982.1_Silent_p.R556R|FYB_ENST00000505428.1_Silent_p.R556R	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	556	SH3.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CACATGAACCCCTTGCTGTTC	0.433000													10	34					0	0	0.001368	0	0
CFLAR	8837	broad.mit.edu	37	2	202028672	202028672	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:202028672G>A	ENST00000309955.2	+	10	1934	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	CFLAR_ENST00000341582.6_Silent_p.K438K|CFLAR_ENST00000443227.1_Silent_p.K377K|CFLAR_ENST00000355558.4_3'UTR|CFLAR_ENST00000423241.2_Silent_p.K473K	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	473	Interaction with TRAF1 and TRAF2.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTCTGAGAAAGAAACTTATCC	0.463000													7	21					0	0	0.003080	0	0
TMEM74	157753	broad.mit.edu	37	8	109796576	109796576	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:109796576A>C	ENST00000297459.3	-	2	930	c.752T>G	c.(751-753)aTg>aGg	p.M251R	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	251					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CATGGACATCATTAACAAGCA	0.542000													14	34					0	0	0.004007	0	0
SMARCC2	6601	broad.mit.edu	37	12	56561897	56561897	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:56561897T>C	ENST00000394023.3	-	26	2902	c.2797A>G	c.(2797-2799)Aaa>Gaa	p.K933E	SMARCC2_ENST00000347471.4_Missense_Mutation_p.K933E|SMARCC2_ENST00000550164.1_Missense_Mutation_p.K933E|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.K902E	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	902					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGCCGAAGTTTGATCTCCAAC	0.547000													45	51					0	0	0.003214	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788198	140788198	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:140788198C>T	ENST00000520790.1	+	1	429	c.429C>T	c.(427-429)ttC>ttT	p.F143F	PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAAATTTTCGAATCTGCAT	0.348000													8	33					0	0	0.006214	0	0
C20orf194	25943	broad.mit.edu	37	20	3277506	3277506	+	Splice_Site	SNP	A	A	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:3277506A>T	ENST00000252032.9	-	23	2086		c.e23+1		C20orf194_ENST00000453730.2_Splice_Site|C20orf194_ENST00000498079.1_5'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194											NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GCAGCCACTTACAATCTCTTT	0.453000													51	195					0	0	0.003610	0	0
CCDC34	91057	broad.mit.edu	37	11	27362301	27362301	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:27362301C>T	ENST00000328697.6	-	5	1522	c.849G>A	c.(847-849)gcG>gcA	p.A283A	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	283										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						GTTTATGTTTCGCATTTTCCA	0.358000													36	59					0	0	0.005524	0	0
DIS3L2	129563	broad.mit.edu	37	2	233201319	233201319	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:233201319C>T	ENST00000325385.7	+	21	2913	c.2637C>T	c.(2635-2637)ccC>ccT	p.P879P	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Silent_p.P879P	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	879							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ACGGTGAGCCCGAGGACTCAA	0.677000													10	9					0	0	0.000978	0	0
SPAM1	6677	broad.mit.edu	37	7	123599727	123599727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:123599727G>A	ENST00000340011.5	+	5	1591	c.1234G>A	c.(1234-1236)Ggt>Agt	p.G412S	SPAM1_ENST00000439500.1_Missense_Mutation_p.G412S|SPAM1_ENST00000223028.7_Missense_Mutation_p.G412S|SPAM1_ENST00000402183.2_Missense_Mutation_p.G412S|SPAM1_ENST00000460182.1_Missense_Mutation_p.G412S	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	412					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ACTTGAGAAAGGTGGAAAGTT	0.398000													11	58					0	0	0.000978	0	0
EPPK1	83481	broad.mit.edu	37	8	144945250	144945250	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:144945250G>A	ENST00000525985.1	-	2	2243	c.2172C>T	c.(2170-2172)atC>atT	p.I724I				P58107	EPIPL_HUMAN	epiplakin 1	724						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCGTGGCGATCTGGGCCT	0.662000													29	57					0	0	0.005443	0	0
LPGAT1	9926	broad.mit.edu	37	1	211956832	211956832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:211956832G>A	ENST00000366997.4	-	5	692	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	LPGAT1_ENST00000366996.1_Missense_Mutation_p.R156C	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	156					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TGTTGGTCACGATAAGATCTT	0.368000													11	48					0	0	0.001368	0	0
PITPNM3	83394	broad.mit.edu	37	17	6441394	6441394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:6441394G>A	ENST00000262483.8	-	2	118	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	ACKR6_ENST00000421306.3_Missense_Mutation_p.P11S	NM_031220.3	NP_112497.2																					CCGCCCGGGGGAGGACCACCT	0.557000													15	14					0	0	0.006122	0	0
TMEM63C	57156	broad.mit.edu	37	14	77718140	77718140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:77718140C>T	ENST00000298351.4	+	22	2191	c.2047C>T	c.(2047-2049)Cac>Tac	p.H683Y		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	683						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		AGGTTCTCTCCACGCCATCAC	0.567000													26	48					0	0	0.006320	0	0
SPEG	10290	broad.mit.edu	37	2	220354408	220354408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:220354408G>A	ENST00000312358.7	+	36	8800	c.8668G>A	c.(8668-8670)Ggg>Agg	p.G2890R	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2890	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACTCCTCAAGGGGTTAAACC	0.617000													50	126					0	0	0.003610	0	0
VSTM4	196740	broad.mit.edu	37	10	50255027	50255027	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:50255027C>T	ENST00000332853.3	-	7	861		c.e7+1			NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4							integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CGGTTACTTACCAGCGTGACT	0.438000													93	35					0	0	0.003610	0	0
GAPVD1	26130	broad.mit.edu	37	9	128088795	128088795	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:128088795G>A	ENST00000470056.1	+	10	2119	c.1959G>A	c.(1957-1959)gaG>gaA	p.E653E	GAPVD1_ENST00000312123.9_Silent_p.E632E|GAPVD1_ENST00000297933.6_Silent_p.E653E|GAPVD1_ENST00000265956.4_Silent_p.E653E|GAPVD1_ENST00000495955.1_Silent_p.E653E|GAPVD1_ENST00000394104.2_Silent_p.E653E|GAPVD1_ENST00000394083.2_Silent_p.E632E|GAPVD1_ENST00000394105.2_Silent_p.E653E			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	653					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTGAGTGAGACCTGGAGTA	0.398000													40	12					0	0	0.006230	0	0
COL6A3	1293	broad.mit.edu	37	2	238243405	238243405	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:238243405G>A	ENST00000295550.4	-	41	9545	c.9093C>T	c.(9091-9093)tcC>tcT	p.S3031S	COL6A3_ENST00000347401.3_Silent_p.S2830S|COL6A3_ENST00000346358.4_Silent_p.S2831S|COL6A3_ENST00000472056.1_Silent_p.S2424S|COL6A3_ENST00000409809.1_Silent_p.S2825S|COL6A3_ENST00000353578.4_Silent_p.S2825S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3031	Fibronectin type-III.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCAGAACCAGGGACTGATCAT	0.572000													20	34					0	0	0.001882	0	0
CALN1	83698	broad.mit.edu	37	7	71275429	71275429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:71275429G>A	ENST00000395275.2	-	6	938	c.550C>T	c.(550-552)Cat>Tat	p.H184Y	CALN1_ENST00000329008.5_Missense_Mutation_p.H142Y|CALN1_ENST00000395276.2_Missense_Mutation_p.H142Y|CALN1_ENST00000431984.1_Missense_Mutation_p.H142Y|CALN1_ENST00000412588.1_Missense_Mutation_p.H184Y|CALN1_ENST00000405452.2_Missense_Mutation_p.H142Y	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	142						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.H142Y(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CGGAAGGCATGATAGAGAATG	0.448000													66	42					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141734562	141734562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:141734562G>A	ENST00000475668.2	+	16	1934	c.1880G>A	c.(1879-1881)gGa>gAa	p.G627E	MGAM_ENST00000549489.2_Missense_Mutation_p.G627E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	627	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)	CATTGGTTAGGAGACAACACT	0.522000													37	12					0	0	0.004878	0	0
NRXN1	9378	broad.mit.edu	37	2	50780137	50780137	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:50780137C>T	ENST00000404971.1	-	10	2806	c.1467G>A	c.(1465-1467)agG>agA	p.R489R	NRXN1_ENST00000405472.3_Silent_p.R441R|NRXN1_ENST00000402717.3_Silent_p.R441R|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.R449R|NRXN1_ENST00000406859.3_Silent_p.R449R|NRXN1_ENST00000401669.2_Silent_p.R449R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	449	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATAATTCCAGCCTCACATCAT	0.393000													18	89					0	0	0.001882	0	0
HGD	3081	broad.mit.edu	37	3	120369647	120369647	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:120369647G>A	ENST00000283871.5	-	6	867	c.408C>T	c.(406-408)ttC>ttT	p.F136F		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	136					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TATTGCAGAGGAAAATGTGGA	0.483000													36	92					0	0	0.006230	0	0
FAM86EP	348926	broad.mit.edu	37	4	3954857	3954857	+	RNA	SNP	C	C	A	rs17410899		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:3954857C>A	ENST00000281228.8	-	0	141				FAM86EP_ENST00000313946.8_RNA																							AATATCCCGCCGCAGCTCAGA	0.488000													4	103					5.9392e-07	6.97265e-07	0.001168	1	0
MARCO	8685	broad.mit.edu	37	2	119739049	119739049	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:119739049G>A	ENST00000541757.1	+	10	977	c.597G>A	c.(595-597)ggG>ggA	p.G199G	MARCO_ENST00000327097.4_Silent_p.G277G			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	277	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GAGCCCAGGGGAGTAAAGGTG	0.532000													8	29					0	0	0.003080	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429126	23429126	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:23429126A>G	ENST00000519973.1	+	4	973	c.775A>G	c.(775-777)Aag>Gag	p.K259E		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	259					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GGACGTCTGTAAGACCCTTCT	0.672000													8	23					0	0	0.003080	0	0
ACP2	53	broad.mit.edu	37	11	47266324	47266324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:47266324C>T	ENST00000256997.3	-	7	850	c.734G>A	c.(733-735)gGa>gAa	p.G245E	ACP2_ENST00000529444.1_Missense_Mutation_p.G182E|ACP2_ENST00000527256.1_Missense_Mutation_p.G213E|ACP2_ENST00000537863.1_Missense_Mutation_p.G58E|ACP2_ENST00000533929.1_Missense_Mutation_p.G217E|ACP2_ENST00000525230.1_5'UTR	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	245						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CTGGTAGATTCCGAAGAGGAA	0.602000													35	48					0	0	0.005524	0	0
NR4A1	3164	broad.mit.edu	37	12	52450363	52450363	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:52450363C>T	ENST00000545748.1	+	5	2249	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	NR4A1_ENST00000243050.1_Silent_p.L364L|NR4A1_ENST00000360284.3_Silent_p.L377L|NR4A1_ENST00000550082.1_Silent_p.L377L|NR4A1_ENST00000394824.2_Silent_p.L364L|NR4A1_ENST00000394825.1_Silent_p.L364L			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	364	Ligand-binding (Potential).				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTGCCAATCTCCTCACTTCCC	0.627000													58	66					0	0	0.003610	0	0
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711000													8	51					0	0	0.006214	0	0
COL16A1	1307	broad.mit.edu	37	1	32155398	32155398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:32155398C>T	ENST00000373672.3	-	23	2080	c.1564G>A	c.(1564-1566)Gga>Aga	p.G522R	COL16A1_ENST00000271069.6_Missense_Mutation_p.G522R|COL16A1_ENST00000373668.3_Missense_Mutation_p.G522R	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	522	Triple-helical region 8 (COL8) with 1 imperfection.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCAGGAAGTCCAACAAAGTTC	0.597000													18	89					0	0	0.001882	0	0
HVCN1	84329	broad.mit.edu	37	12	111099079	111099079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:111099079C>T	ENST00000356742.5	-	3	949	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	HVCN1_ENST00000439744.2_Missense_Mutation_p.E46K|HVCN1_ENST00000242607.8_Missense_Mutation_p.E66K|HVCN1_ENST00000548312.1_Missense_Mutation_p.E66K			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	66					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GCTCTGCCTTCCTCGCCTGAG	0.607000													33	32					0	0	0.004289	0	0
DYRK2	8445	broad.mit.edu	37	12	68051037	68051037	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:68051037C>G	ENST00000344096.3	+	3	763	c.350C>G	c.(349-351)aCg>aGg	p.T117R	DYRK2_ENST00000393555.3_Missense_Mutation_p.T44R	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	117					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GTGGGCAAAACGGGCTTGCCA	0.537000													14	35					0	0	0.002450	0	0
GTF3C1	2975	broad.mit.edu	37	16	27481622	27481622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:27481622G>A	ENST00000356183.4	-	31	4636	c.4621C>T	c.(4621-4623)Cgt>Tgt	p.R1541C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1541C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1541						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AAAGAGAAACGATCAGGCTGG	0.522000													74	116					0	0	0.003610	0	0
ZNF677	342926	broad.mit.edu	37	19	53741769	53741769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:53741769C>T	ENST00000333952.4	-	5	376	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	ZNF677_ENST00000598513.1_Missense_Mutation_p.E71K			Q86XU0	ZN677_HUMAN	zinc finger protein 677	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTATTATTTTCCTTTGGTGAT	0.338000													10	43					0	0	0.008291	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49663151	49663151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:49663151G>A	ENST00000249601.4	-	6	982	c.686C>T	c.(685-687)tCc>tTc	p.S229F	ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.S235F|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.S245F|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.S120F|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.S139F	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	229	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTCAGCAGGGAGGCCACCGT	0.657000													9	14					0	0	0.000978	0	0
C12orf56	115749	broad.mit.edu	37	12	64668754	64668754	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:64668754C>T	ENST00000543942.2	-	11	2137	c.1509_splice	c.e11-1	p.G504_splice	C12orf56_ENST00000333722.5_Splice_Site_p.G344_splice|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	507										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TCCGAGATTTCCCTAAAAGAC	0.323000													31	57					0	0	0.002445	0	0
ABCA13	154664	broad.mit.edu	37	7	48312681	48312681	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:48312681A>C	ENST00000435803.1	+	17	3442	c.3418A>C	c.(3418-3420)Aag>Cag	p.K1140Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1140					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						TGTGTTCAACAAGTTTATGTC	0.348000													17	80					0	0	0.004990	0	0
OR2T2	401992	broad.mit.edu	37	1	248616302	248616302	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:248616302C>T	ENST00000342927.3	+	1	226	c.204C>T	c.(202-204)tcC>tcT	p.S68S		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCAGCTCTCCATCATGGATA	0.512000													56	154					0	0	0.003610	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540838	133540838	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:133540838G>A	ENST00000409261.1	-	14	3919	c.3546C>T	c.(3544-3546)tcC>tcT	p.S1182S	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.S1182S|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1182							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCACAGCCACGGAACTTTTGG	0.488000													19	30					0	0	0.007413	0	0
OR52E4	390081	broad.mit.edu	37	11	5905795	5905795	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:5905795C>T	ENST00000316987.2	+	1	295	c.273C>T	c.(271-273)ctC>ctT	p.L91L		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCAACCTCCAAGAGATCA	0.468000													31	123					0	0	0.002445	0	0
BIRC8	112401	broad.mit.edu	37	19	53793072	53793072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:53793072C>T	ENST00000426466.1	-	1	1803	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	186					apoptosis		zinc ion binding	p.E186K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CAAAGCTTCTCCTCTTGCAGA	0.433000													21	39					0	0	0.008871	0	0
MBD2	8932	broad.mit.edu	37	18	51729274	51729274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:51729274G>A	ENST00000583046.1	-	3	958	c.901C>T	c.(901-903)Cct>Tct	p.P301S	MBD2_ENST00000398398.2_3'UTR|MBD2_ENST00000256429.3_Intron	NM_015832.4	NP_056647.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	0					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	cattatggaggaaaggattgg	0.498000													51	82					0	0	0.003610	0	0
C2CD5	9847	broad.mit.edu	37	12	22659723	22659723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:22659723G>A	ENST00000333957.4	-	10	1324	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	C2CD5_ENST00000544930.1_Missense_Mutation_p.P150S|C2CD5_ENST00000536386.1_Missense_Mutation_p.P359S|C2CD5_ENST00000545552.1_Missense_Mutation_p.P348S|C2CD5_ENST00000446597.1_Missense_Mutation_p.P357S|C2CD5_ENST00000542676.1_Missense_Mutation_p.P357S|C2CD5_ENST00000396028.2_Missense_Mutation_p.P348S	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		AATCCAGGAGGAAATGCCGTC	0.368000													27	105					0	0	0.004656	0	0
PRDM15	63977	broad.mit.edu	37	21	43243672	43243672	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr21:43243672A>G	ENST00000422911.1	-	15	2034		c.e15+1		PRDM15_ENST00000269844.3_Splice_Site|PRDM15_ENST00000538201.1_Splice_Site|PRDM15_ENST00000447207.2_Splice_Site|PRDM15_ENST00000398548.1_Splice_Site			P57071	PRD15_HUMAN	PR domain containing 15						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGCGATCGACACCTTGAAGTG	0.622000													3	1					0	0	0.004672	0	0
LCT	3938	broad.mit.edu	37	2	136564929	136564929	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:136564929G>A	ENST00000264162.2	-	9	3952	c.3942C>T	c.(3940-3942)gtC>gtT	p.V1314V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1314	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGACCAGGCGACATACCCTC	0.527000													36	36					0	0	0.006230	0	0
CPNE4	131034	broad.mit.edu	37	3	131404763	131404763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:131404763G>A	ENST00000512055.1	-	10	2673	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	CPNE4_ENST00000512332.1_Missense_Mutation_p.R201C|CPNE4_ENST00000511604.1_Missense_Mutation_p.R183C|CPNE4_ENST00000429747.1_Missense_Mutation_p.R183C|CPNE4_ENST00000502818.1_Missense_Mutation_p.R201C			Q96A23	CPNE4_HUMAN	copine IV	183	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCATTCATACGAAAAATTTCC	0.383000													6	21					0	0	0.001168	0	0
LRRK2	120892	broad.mit.edu	37	12	40689422	40689422	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:40689422G>A	ENST00000298910.7	+	23	3130	c.3072G>A	c.(3070-3072)acG>acA	p.T1024T	LRRK2_ENST00000343742.2_Silent_p.T1024T	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1024					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGCACTCACGAGCTTTCCAC	0.343000													17	23					0	0	0.008871	0	0
PLG	5340	broad.mit.edu	37	6	161160199	161160199	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:161160199G>A	ENST00000308192.9	+	16	2040	c.1977G>A	c.(1975-1977)ttG>ttA	p.L659L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	659	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGCTGTTCTTGGAGCCCACAC	0.493000													50	15					0	0	0.003610	0	0
FBXW10	10517	broad.mit.edu	37	17	18647600	18647600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:18647600C>T	ENST00000308799.4	+	1	262	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	FBXW10_ENST00000395665.4_Missense_Mutation_p.R15C|FBXW10_ENST00000301938.4_Missense_Mutation_p.R15C|FBXW10_ENST00000395667.1_Missense_Mutation_p.R15C			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	15										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CCCCTATTTTCGTTGTGAGAA	0.493000													61	98					0	0	0.003610	0	0
MERTK	10461	broad.mit.edu	37	2	112779006	112779006	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:112779006G>T	ENST00000295408.4	+	17	2454	c.2197G>T	c.(2197-2199)Gat>Tat	p.D733Y	MERTK_ENST00000421804.2_Missense_Mutation_p.D733Y|MERTK_ENST00000409780.1_Missense_Mutation_p.D557Y			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	733	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TAGGTTGCGAGATGACATGAC	0.458000													21	54					5.45024e-15	6.4459e-15	0.003330	1	0
TLL1	7092	broad.mit.edu	37	4	167012279	167012279	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:167012279G>A	ENST00000061240.2	+	19	3089		c.e19-1		TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ttttaaaaaaGGCCTTTAGTG	0.303000													7	11					0	0	0.008291	0	0
C15orf40	123207	broad.mit.edu	37	15	83680267	83680267	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:83680267C>T	ENST00000304177.5	-	1	126	c.12G>A	c.(10-12)aaG>aaA	p.K4K	C15orf40_ENST00000451195.3_Silent_p.K31K|C15orf40_ENST00000565712.1_Silent_p.K31K|C15orf40_ENST00000538348.2_Silent_p.K31K|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000513601.2_Silent_p.K31K	NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	4										large_intestine(3)|lung(2)|skin(1)	6						TCGCACCAGCCTTCTTAGGCA	0.682000											OREG0023391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	29					0	0	0.001368	0	0
ZNF420	147923	broad.mit.edu	37	19	37618929	37618929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:37618929C>T	ENST00000337995.3	+	5	1251	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.R346W	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCCTTTATTCGGGGCTCACT	0.408000													38	31					0	0	0.005524	0	0
ABCC10	89845	broad.mit.edu	37	6	43400499	43400499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:43400499C>T	ENST00000244533.3	+	1	1011	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.R261C	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	261						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R218C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTACCTGGCTCGTGTCTTCCA	0.652000													23	26					0	0	0.002780	0	0
PHC1	1911	broad.mit.edu	37	12	9086523	9086523	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:9086523C>T	ENST00000433083.2	+	8	1966	c.1821C>T	c.(1819-1821)gtC>gtT	p.V607V	PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000543824.1_Silent_p.V652V|PHC1_ENST00000544916.1_Silent_p.V652V|PHC1_ENST00000536844.1_Silent_p.V258V			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	652					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GAGATGATGTCTCCACATTGG	0.468000													26	27					0	0	0.004656	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036073	9036073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:9036073C>T	ENST00000383836.3	-	19	2789	c.2362G>A	c.(2362-2364)Ggc>Agc	p.G788S	SRGAP3_ENST00000360413.3_Missense_Mutation_p.G764S	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	788					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCATCCACGCCGTTGTGCCGG	0.572000			T	RAF1	pilocytic astrocytoma								28	58					0	0	0.006320	0	0
KIN	22944	broad.mit.edu	37	10	7811239	7811239	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:7811239C>T	ENST00000379562.3	-	8	785	c.738G>A	c.(736-738)caG>caA	p.Q246Q	KIN_ENST00000543003.1_Silent_p.Q140Q|KIN_ENST00000535925.1_Silent_p.Q246Q			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	246					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GAGTTGAGCTCTGGGAAGATT	0.433000													41	8					0	0	0.006999	0	0
RNF31	55072	broad.mit.edu	37	14	24618730	24618730	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:24618730C>T	ENST00000324103.6	+	6	1067	c.747C>T	c.(745-747)tcC>tcT	p.S249S	RNF31_ENST00000382687.3_Silent_p.S98S|RNF31_ENST00000559275.1_Silent_p.S98S	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	249	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GACACCCATCCCGTGCTCATC	0.612000													37	44					0	0	0.004878	0	0
CSRNP1	64651	broad.mit.edu	37	3	39185379	39185379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:39185379C>T	ENST00000273153.5	-	5	1114	c.937G>A	c.(937-939)Gag>Aag	p.E313K	CSRNP1_ENST00000514182.1_Missense_Mutation_p.E313K	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	313					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GCAGGGGCCTCCAGCTCCCTA	0.602000													8	27					0	0	0.003080	0	0
KCNU1	157855	broad.mit.edu	37	8	36793308	36793308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:36793308G>A	ENST00000399881.3	+	27	3357	c.3320G>A	c.(3319-3321)tGg>tAg	p.W1107*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1107						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CAAATAGCATGGAATCAGAGT	0.378000													43	93					0	0	0.003610	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43591154	43591154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:43591154C>T	ENST00000409746.5	-	5	418	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	PSTPIP2_ENST00000589328.1_Missense_Mutation_p.R116Q|PSTPIP2_ENST00000588801.1_5'UTR	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	116						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						AACCTTTTTTCGTTGTAGTTT	0.428000													78	103					0	0	0.003610	0	0
LCN15	389812	broad.mit.edu	37	9	139658369	139658369	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:139658369G>A	ENST00000316144.5	-	2	213	c.189C>T	c.(187-189)atC>atT	p.I63I	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	63					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|lung(1)	2						CTGTGGGCCTGATGGCCCTGG	0.647000													62	53					0	0	0.003610	0	0
IFNA16	3449	broad.mit.edu	37	9	21217032	21217032	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:21217032G>A	ENST00000380216.1	-	1	278	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	91					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCTTTGTGCTGAAGAGATTGA	0.478000													65	14					0	0	0.003610	0	0
IL2RA	3559	broad.mit.edu	37	10	6061880	6061880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:6061880G>A	ENST00000379959.3	-	5	781	c.608C>T	c.(607-609)cCc>cTc	p.P203L	IL2RA_ENST00000256876.6_Missense_Mutation_p.P194L|IL2RA_ENST00000379954.1_Missense_Mutation_p.P131L	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	203					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ACGGCCTTCGGGGCTTGCCTG	0.602000													19	41					0	0	0.007413	0	0
CACNA1S	779	broad.mit.edu	37	1	201028335	201028335	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:201028335G>A	ENST00000362061.3	-	27	3733	c.3507C>T	c.(3505-3507)ctC>ctT	p.L1169L	CACNA1S_ENST00000367338.3_Silent_p.L1169L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1169					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGAAGGCCATGAGCTTGAGGA	0.577000													31	12					0	0	0.002836	0	0
PCLO	27445	broad.mit.edu	37	7	82784726	82784726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:82784726G>A	ENST00000423517.2	-	2	1568	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S	PCLO_ENST00000333891.8_Missense_Mutation_p.P411S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	362	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTGGGTTGGAGGCTTTGCT	0.582000													92	64					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20959876	20959876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:20959876C>T	ENST00000261383.3	-	57	11271	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3758					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)		TCCTCAATTTCCTTACAGTAG	0.532000													17	54					0	0	0.006122	0	0
CAPN15	6650	broad.mit.edu	37	16	597654	597654	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:597654G>A	ENST00000219611.2	+	4	1179	c.816G>A	c.(814-816)agG>agA	p.R272R	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		CCGGCTGCAGGGGAGCCCCCC	0.721000													7	8					0	0	0.003080	0	0
SPTB	6710	broad.mit.edu	37	14	65271708	65271708	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:65271708C>T	ENST00000389722.3	-	2	302	c.249G>A	c.(247-249)cgG>cgA	p.R83R	SPTB_ENST00000542895.1_Silent_p.R83R|SPTB_ENST00000389720.3_Silent_p.R83R|SPTB_ENST00000389721.5_Silent_p.R83R|SPTB_ENST00000556626.1_Silent_p.R83R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	83	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCGCCCATCCCGCAGGTCCT	0.587000													46	22					0	0	0.003610	0	0
USP10	9100	broad.mit.edu	37	16	84806182	84806182	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:84806182C>T	ENST00000219473.7	+	12	2147	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	USP10_ENST00000570191.1_Silent_p.L682L	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	678					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TGGAAAAACTCCCTCCTGTCC	0.463000													91	84					0	0	0.003610	0	0
BEND2	139105	broad.mit.edu	37	X	18195771	18195771	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:18195771C>T	ENST00000380033.4	-	10	1680	c.1548G>A	c.(1546-1548)aaG>aaA	p.K516K	BEND2_ENST00000380030.3_Silent_p.K425K	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	516	BEN 1.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCAGGATTTCCTTGGAGAACA	0.423000													202	20					0	0	0.003610	0	0
NUB1	51667	broad.mit.edu	37	7	151052945	151052945	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:151052945C>T	ENST00000568733.1	+	6	645	c.579C>T	c.(577-579)ttC>ttT	p.F193F	NUB1_ENST00000566856.1_Silent_p.F169F|NUB1_ENST00000355851.4_Silent_p.F169F|NUB1_ENST00000477666.1_3'UTR|NUB1_ENST00000413040.2_Silent_p.F193F			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	169					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GGAAAAACTTCCAGTTAGAGG	0.428000													5	24					0	0	0.000602	0	0
FAM193A	8603	broad.mit.edu	37	4	2701659	2701659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:2701659C>T	ENST00000324666.5	+	17	3238	c.2887C>T	c.(2887-2889)Cct>Tct	p.P963S	FAM193A_ENST00000545951.1_Missense_Mutation_p.P963S|FAM193A_ENST00000502458.1_Missense_Mutation_p.P985S|FAM193A_ENST00000505311.1_Missense_Mutation_p.P963S|FAM193A_ENST00000382839.3_Missense_Mutation_p.P963S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	963										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGAGTCTGTTCCTAACTCTGG	0.473000													31	54					0	0	0.001786	0	0
AIM1L	55057	broad.mit.edu	37	1	26669298	26669298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:26669298G>A	ENST00000527815.1	-	4	578	c.529C>T	c.(529-531)Cca>Tca	p.P177S	AIM1L_ENST00000308182.5_Missense_Mutation_p.P6S	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	6	Beta/gamma crystallin 'Greek key' 4.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-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;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TTTGTCCCTGGGGTTCTGAGT	0.582000													69	109					0	0	0.003610	0	0
ADAM9	8754	broad.mit.edu	37	8	38879213	38879213	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:38879213C>T	ENST00000487273.2	+	8	802	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	242	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GATGATTCTCCTGGCAAACTA	0.363000													40	20					0	0	0.002222	0	0
WDR76	79968	broad.mit.edu	37	15	44153570	44153570	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:44153570C>T	ENST00000263795.6	+	12	1672	c.1602C>T	c.(1600-1602)ctC>ctT	p.L534L	WDR76_ENST00000381246.2_Silent_p.L470L|WDR76_ENST00000478130.1_3'UTR	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	534										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AGATTCCGCTCCTCACCACCA	0.333000													13	39					0	0	0.001855	0	0
DYSF	8291	broad.mit.edu	37	2	71741043	71741043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:71741043G>A	ENST00000258104.3	+	6	932	c.655G>A	c.(655-657)Gat>Aat	p.D219N	DYSF_ENST00000409744.1_Missense_Mutation_p.D220N|DYSF_ENST00000409762.1_Missense_Mutation_p.D250N|DYSF_ENST00000413539.2_Missense_Mutation_p.D250N|DYSF_ENST00000409651.1_Missense_Mutation_p.D251N|DYSF_ENST00000410020.3_Missense_Mutation_p.D251N|DYSF_ENST00000409582.3_Missense_Mutation_p.D250N|DYSF_ENST00000410041.1_Missense_Mutation_p.D251N|DYSF_ENST00000429174.2_Missense_Mutation_p.D219N|DYSF_ENST00000409366.1_Missense_Mutation_p.D220N|DYSF_ENST00000394120.2_Missense_Mutation_p.D220N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	219	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						CAAACCGCAGGATTTCCAGGT	0.572000													5	24					0	0	0.000602	0	0
TTLL6	284076	broad.mit.edu	37	17	46862366	46862366	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:46862366C>T	ENST00000393382.3	-	13	2100	c.1959G>A	c.(1957-1959)tcG>tcA	p.S653S	TTLL6_ENST00000433608.2_Silent_p.S346S	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	605						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTCCAACTTCGAGCTGCTGA	0.542000													30	83					0	0	0.001786	0	0
UNC13C	440279	broad.mit.edu	37	15	54542545	54542545	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:54542545C>T	ENST00000545554.1	+	7	3351	c.3351C>T	c.(3349-3351)ctC>ctT	p.L1117L	UNC13C_ENST00000260323.11_Silent_p.L1117L|UNC13C_ENST00000537900.1_Silent_p.L1115L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1117					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTGAAGGGCTCCTGTGGGGCA	0.522000													16	43					0	0	0.004007	0	0
FAM19A5	25817	broad.mit.edu	37	22	49103614	49103614	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:49103614C>T	ENST00000358295.5	+	3	502	c.327C>T	c.(325-327)ggC>ggT	p.G109G	FAM19A5_ENST00000402357.1_Silent_p.G116G|FAM19A5_ENST00000406880.1_Silent_p.G37G|FAM19A5_ENST00000473898.1_3'UTR	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	116						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		ACCGGTCAGGCTGGACGTGCA	0.592000													69	74					0	0	0.003610	0	0
CILP	8483	broad.mit.edu	37	15	65499223	65499223	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:65499223C>T	ENST00000261883.4	-	4	487	c.321G>A	c.(319-321)caG>caA	p.Q107Q		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	107					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATGGACCACCTGGCCAGTGC	0.622000													18	12					0	0	0.006122	0	0
SYT4	6860	broad.mit.edu	37	18	40853626	40853626	+	Silent	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:40853626T>C	ENST00000255224.3	-	2	1136	c.768A>G	c.(766-768)gaA>gaG	p.E256E	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.E238E	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	256	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GAATTAGAACTTCCCCAATGA	0.353000													17	25					0	0	0.004990	0	0
XDH	7498	broad.mit.edu	37	2	31621532	31621532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:31621532C>T	ENST00000379416.3	-	5	388	c.340G>A	c.(340-342)Ggg>Agg	p.G114R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	114					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGCAGAACCCGCACTGGGAG	0.552000													34	106					0	0	0.002836	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748832	43748832	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:43748832G>A	ENST00000263801.3	-	12	2211	c.1959C>T	c.(1957-1959)caC>caT	p.H653H	TP53BP1_ENST00000450115.2_Silent_p.H658H|TP53BP1_ENST00000382039.3_Silent_p.H658H|TP53BP1_ENST00000382044.4_Silent_p.H658H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	653					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCTCTGGATGGTGTTCTTTAA	0.478000								Other conserved DNA damage response genes					25	92					0	0	0.004656	0	0
TNPO3	23534	broad.mit.edu	37	7	128626824	128626824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:128626824G>A	ENST00000393245.1	-	12	2124	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	TNPO3_ENST00000265388.5_Missense_Mutation_p.S550F|TNPO3_ENST00000471234.1_Intron|TNPO3_ENST00000482320.1_Missense_Mutation_p.S484F|TNPO3_ENST00000471166.1_Missense_Mutation_p.S584F	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	550					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CAACAGGAAGGAATCGAGGGA	0.488000													24	69					0	0	0.004656	0	0
FAT3	120114	broad.mit.edu	37	11	92569774	92569774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:92569774C>T	ENST00000298047.6	+	15	10146	c.10129C>T	c.(10129-10131)Cat>Tat	p.H3377Y	FAT3_ENST00000525166.1_Missense_Mutation_p.H3227Y|FAT3_ENST00000409404.2_Missense_Mutation_p.H3377Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3377	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGGACAGATTCATTTTTCCAT	0.413000										TCGA Ovarian(4;0.039)			193	58					0	0	0.003610	0	0
PRKCB	5579	broad.mit.edu	37	16	24226094	24226094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:24226094C>T	ENST00000303531.7	+	17	2131	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	PRKCB_ENST00000321728.7_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	661	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAAGGATTTTCCTTTGTTAAC	0.428000													36	55					0	0	0.005524	0	0
ANKAR	150709	broad.mit.edu	37	2	190557052	190557052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:190557052C>T	ENST00000520309.1	+	4	1199	c.1111C>T	c.(1111-1113)Cac>Tac	p.H371Y	ANKAR_ENST00000313581.4_Missense_Mutation_p.H371Y|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000438402.2_Missense_Mutation_p.H371Y|ANKAR_ENST00000431575.2_Missense_Mutation_p.H300Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.H135Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	371						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CCAGAATTTTCACTACAAAGA	0.318000													16	17					0	0	0.003163	0	0
SKAP2	8935	broad.mit.edu	37	7	26724414	26724414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:26724414C>T	ENST00000345317.2	-	11	1241	c.928G>A	c.(928-930)Gga>Aga	p.G310R	SKAP2_ENST00000539623.1_Missense_Mutation_p.G138R	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	310	SH3.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GAAAAAGCTCCAGTACAATCC	0.378000													9	36					0	0	0.008291	0	0
PAPL	390928	broad.mit.edu	37	19	39589776	39589776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:39589776C>T	ENST00000331256.5	+	4	773	c.499C>T	c.(499-501)Cat>Tat	p.H167Y	PAPL_ENST00000594229.1_Missense_Mutation_p.H167Y	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		167						extracellular region	acid phosphatase activity|metal ion binding										CGCCGTTCTCCATGTGGGTGA	0.751000													16	44					0	0	0.007413	0	0
POTEG	404785	broad.mit.edu	37	14	19566060	19566060	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:19566060C>T	ENST00000409832.3	+	6	1156	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	368										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTAAAAGTCTCTTCTGAAA	0.323000													18	93					0	0	0.001882	0	0
BBOX1	8424	broad.mit.edu	37	11	27114841	27114841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:27114841G>A	ENST00000263182.3	+	5	829	c.461G>A	c.(460-462)gGa>gAa	p.G154E	RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.G154E|BBOX1_ENST00000527505.1_Intron|BBOX1_ENST00000529202.1_Missense_Mutation_p.G154E|BBOX1_ENST00000528583.1_Missense_Mutation_p.G154E|RP11-1L12.3_ENST00000530430.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	154					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	AGACTCACCGGAGCATCTGAC	0.423000													35	43					0	0	0.004878	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170069	20170069	+	RNA	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:20170069C>T	ENST00000338912.5	-	0	202																		p.G68D(1)|p.G68A(1)									GCACACCAATCCCATCCACTC	0.557000													49	41					0	0	0.003610	0	0
ATHL1	80162	broad.mit.edu	37	11	293411	293411	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:293411C>T	ENST00000409548.2	+	9	1504	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	ATHL1_ENST00000409655.1_Intron|ATHL1_ENST00000409479.1_Silent_p.I490I	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	463					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTCTTCCCATCCCCAGCCAGT	0.627000													19	33					0	0	0.006122	0	0
CCDC87	55231	broad.mit.edu	37	11	66359618	66359618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:66359618G>A	ENST00000333861.3	-	1	936	c.869C>T	c.(868-870)cCt>cTt	p.P290L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	290										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGGGGCCACAGGATAGCTGGG	0.597000													42	61					0	0	0.003610	0	0
IGLL1	3543	broad.mit.edu	37	22	23917246	23917246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:23917246C>T	ENST00000330377.2	-	2	347	c.230G>A	c.(229-231)tGg>tAg	p.W77*	IGLL1_ENST00000249053.3_Intron	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	77					immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GGGGCCAGTCCAGGAGCCGCG	0.632000													9	59					0	0	0.000978	0	0
SLC6A13	6540	broad.mit.edu	37	12	369215	369215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:369215C>T	ENST00000343164.4	-	2	56	c.4G>A	c.(4-6)Gat>Aat	p.D2N	SLC6A13_ENST00000436453.1_Missense_Mutation_p.D2N|SLC6A13_ENST00000445055.2_Missense_Mutation_p.D2N	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	2					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACCCTGCTATCCATCCCACCT	0.507000													61	68					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9007535	9007535	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:9007535C>G	ENST00000397910.4	-	43	39636	c.39433G>C	c.(39433-39435)Gtt>Ctt	p.V13145L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13147					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						CCAAGGTCAACTGTGGAAGTC	0.527000													8	27					0	0	0.003080	0	0
RING1	6015	broad.mit.edu	37	6	33177794	33177794	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:33177794G>A	ENST00000374656.4	+	4	550	c.342G>A	c.(340-342)cgG>cgA	p.R114R	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	114	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						ATCCTAGCCGGGAGGAATACG	0.572000													18	18					0	0	0.004990	0	0
OR52I2	143502	broad.mit.edu	37	11	4608339	4608339	+	Silent	SNP	G	G	A	rs145090174		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:4608339G>A	ENST00000312614.4	+	1	319	c.297G>A	c.(295-297)gtG>gtA	p.V99V		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V99V(1)		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)		TGGCTGCTGTGGACATTGTTA	0.483000													55	227					0	0	0.003610	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84558914	84558914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:84558914C>T	ENST00000286744.5	+	11	1350	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P376S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	376						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGGGTAGTTCCTGACCATTA	0.408000													46	39					0	0	0.002522	0	0
KDM2B	84678	broad.mit.edu	37	12	121947409	121947409	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:121947409C>T	ENST00000377069.4	-	11	1921	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000538046.2_Silent_p.E446E|KDM2B_ENST00000536437.1_Silent_p.E419E|KDM2B_ENST00000377071.4_Silent_p.E536E	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	536					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTCGATGCCCTCGGGGACAC	0.627000													23	40					0	0	0.001882	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880258	42880258	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:42880258C>T	ENST00000431473.3	+	5	918	c.789C>T	c.(787-789)atC>atT	p.I263I		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	263	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ATCTCCTTATCATGGACGATG	0.512000													141	181					0	0	0.003610	0	0
OPRK1	4986	broad.mit.edu	37	8	54147319	54147319	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:54147319C>T	ENST00000265572.3	-	3	907	c.610_splice	c.e3+1	p.D204_splice	OPRK1_ENST00000520287.1_Splice_Site_p.D204_splice|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Splice_Site_p.D115_splice	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	204					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CTGCTCTTACCTTCCCTGACT	0.413000													7	48					0	0	0.003080	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44806175	44806175	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:44806175G>A	ENST00000309315.4	+	18	2691	c.2568G>A	c.(2566-2568)acG>acA	p.T856T	ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Silent_p.T824T|ZMIZ2_ENST00000441627.1_Silent_p.T856T|ZMIZ2_ENST00000413916.1_Silent_p.T798T|ZMIZ2_ENST00000265346.7_Silent_p.T830T	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	856	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.T856T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGGACCTACGGGTGAACTGG	0.662000													42	50					0	0	0.002222	0	0
BTBD9	114781	broad.mit.edu	37	6	38560427	38560427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:38560427G>A	ENST00000481247.1	-	4	890	c.739C>T	c.(739-741)Cct>Tct	p.P247S	BTBD9_ENST00000419706.2_Missense_Mutation_p.P188S|BTBD9_ENST00000403056.1_Missense_Mutation_p.P247S|BTBD9_ENST00000408958.1_Missense_Mutation_p.P179S|BTBD9_ENST00000314100.6_Missense_Mutation_p.P179S	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	247					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ATGGCATCAGGAGACAGCAGT	0.478000													12	66					0	0	0.001855	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101748841	101748841	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:101748841C>T	ENST00000506729.1	-	9	1650	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	SLCO6A1_ENST00000379807.3_Silent_p.G493G|SLCO6A1_ENST00000389019.3_Silent_p.G431G|SLCO6A1_ENST00000379810.1_Silent_p.G240G|SLCO6A1_ENST00000513675.1_Silent_p.G240G			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	493						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCCCAACTTCCCTGTTCTGT	0.308000													12	14					0	0	0.001855	0	0
CNGA2	1260	broad.mit.edu	37	X	150907032	150907032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:150907032C>T	ENST00000329903.4	+	1	110	c.77C>T	c.(76-78)gCc>gTc	p.A26V		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	26					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GCCATCAAGGCCAATGGCAAA	0.502000													19	32					0	0	0.007413	0	0
CACNA1S	779	broad.mit.edu	37	1	201054654	201054654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:201054654G>A	ENST00000362061.3	-	8	1286	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R354W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	354					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGCTTCTCCCGGAGCTTCTGG	0.572000											OREG0014068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	85					0	0	0.000602	0	0
GABRA2	2555	broad.mit.edu	37	4	46252598	46252598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:46252598C>T	ENST00000510861.1	-	10	1256	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	GABRA2_ENST00000540012.1_Missense_Mutation_p.M366I|GABRA2_ENST00000381620.4_Missense_Mutation_p.M361I|GABRA2_ENST00000356504.1_Missense_Mutation_p.M361I|GABRA2_ENST00000514090.1_Missense_Mutation_p.M361I|GABRA2_ENST00000507069.1_Missense_Mutation_p.M421I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	361					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTCTGTATCATAACGGAAG	0.398000													68	88					0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113988153	113988153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:113988153G>A	ENST00000297405.5	-	7	1499	c.1255C>T	c.(1255-1257)Cca>Tca	p.P419S	CSMD3_ENST00000352409.3_Missense_Mutation_p.P419S|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.P379S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	419						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTATCTGCTGGATGAGGAGAG	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	67					0	0	0.007291	0	0
PEX12	5193	broad.mit.edu	37	17	33904921	33904921	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:33904921C>T	ENST00000225873.4	-	1	727	c.120G>A	c.(118-120)gtG>gtA	p.V40V		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	40					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTACCTTGACCACATGCTGAA	0.438000													40	34					0	0	0.003610	0	0
SNRK	54861	broad.mit.edu	37	3	43389431	43389431	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:43389431C>T	ENST00000296088.7	+	7	1984	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	SNRK_ENST00000437827.1_Silent_p.F354F|SNRK_ENST00000454177.1_Silent_p.F560F|SNRK_ENST00000429705.2_Silent_p.F560F	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	560					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		ATAGCGGGTTCACCTACTCCT	0.637000													30	27					0	0	0.002445	0	0
ZNF165	7718	broad.mit.edu	37	6	28056993	28056993	+	Silent	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:28056993T>C	ENST00000377325.1	+	4	1759	c.1203T>C	c.(1201-1203)ggT>ggC	p.G401G		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	401					viral reproduction	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(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GACCCTTTGGTTGCAAAGAAT	0.448000													39	69					0	0	0.007835	0	0
CHURC1	91612	broad.mit.edu	37	14	65381170	65381170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:65381170C>T	ENST00000607599.1	+	1	92	c.38C>T	c.(37-39)tCt>tTt	p.S13F	CHURC1_ENST00000548752.2_Missense_Mutation_p.S13F|CHURC1_ENST00000359118.2_5'UTR|CHURC1_ENST00000549115.1_Missense_Mutation_p.S13F|CHURC1_ENST00000552002.2_5'UTR	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		GAGGTTTCGTCTTCCCGGAAG	0.602000													31	62					0	0	0.002836	0	0
AGXT	189	broad.mit.edu	37	2	241808383	241808383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:241808383C>T	ENST00000307503.3	+	1	488	c.101C>T	c.(100-102)cCt>cTt	p.P34L		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	34					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCCAACCTGCCTCCTCGCATC	0.647000													19	40					0	0	0.004656	0	0
TOM1	10043	broad.mit.edu	37	22	35729442	35729442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:35729442C>T	ENST00000411850.1	+	10	1104	c.979C>T	c.(979-981)Cct>Tct	p.P327S	TOM1_ENST00000447733.1_Missense_Mutation_p.P294S|TOM1_ENST00000449058.2_Missense_Mutation_p.P327S|TOM1_ENST00000436462.2_Missense_Mutation_p.P289S|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000425375.1_Missense_Mutation_p.P282S	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	327					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CGACATGGGCCCTGACCCAGC	0.607000													16	35					0	0	0.001523	0	0
CLEC10A	10462	broad.mit.edu	37	17	6982116	6982116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:6982116C>T	ENST00000576617.1	-	2	285	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	CLEC10A_ENST00000254868.4_Missense_Mutation_p.E6K|CLEC10A_ENST00000571664.1_Missense_Mutation_p.E6K|CLEC10A_ENST00000416562.2_Missense_Mutation_p.E6K			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	6					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TGGAAGTTTTCATACGTCCTT	0.498000													52	129					0	0	0.003610	0	0
PROM2	150696	broad.mit.edu	37	2	95942031	95942031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:95942031C>T	ENST00000317620.9	+	4	687	c.554C>T	c.(553-555)cCc>cTc	p.P185L	PROM2_ENST00000463580.1_Intron|PROM2_ENST00000317668.4_Missense_Mutation_p.P185L|PROM2_ENST00000542147.1_Missense_Mutation_p.P185L|PROM2_ENST00000403131.2_Missense_Mutation_p.P185L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	185						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CAGATGGGCCCCAGCATCGAG	0.607000													19	61					0	0	0.007413	0	0
STYXL1	51657	broad.mit.edu	37	7	75630321	75630321	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:75630321C>T	ENST00000451157.1	-	8	867		c.e8-1		STYXL1_ENST00000340062.5_Splice_Site|STYXL1_ENST00000359697.3_Splice_Site|STYXL1_ENST00000431581.1_Splice_Site|STYXL1_ENST00000360591.3_Splice_Site|STYXL1_ENST00000248600.1_Splice_Site			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1						intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TGGTGAATTTCTGCAAAAAGA	0.557000													26	60					0	0	0.004656	0	0
SSH3	54961	broad.mit.edu	37	11	67072263	67072263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:67072263C>T	ENST00000308127.4	+	3	302	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	SSH3_ENST00000376757.5_Missense_Mutation_p.R42C|SSH3_ENST00000308298.7_Missense_Mutation_p.R42C|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	42					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGCGGTGCTCCGTGGGGCTGT	0.592000													12	9					0	0	0.000978	0	0
ZBBX	79740	broad.mit.edu	37	3	167031864	167031864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:167031864C>T	ENST00000392766.2	-	16	1655	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	ZBBX_ENST00000307529.5_Missense_Mutation_p.E439K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E439K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E410K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E439K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	439						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATGCCATTTTCATATGGAAAG	0.289000													25	51					0	0	0.003954	0	0
ZNF211	10520	broad.mit.edu	37	19	58146045	58146045	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:58146045T>C	ENST00000544273.1	+	4	502	c.175T>C	c.(175-177)Tgg>Cgg	p.W59R	ZNF211_ENST00000420680.1_Missense_Mutation_p.W51R|ZNF211_ENST00000541801.1_5'UTR|ZNF211_ENST00000391703.3_5'UTR|ZNF211_ENST00000240731.4_Missense_Mutation_p.W60R|ZNF211_ENST00000299871.5_Missense_Mutation_p.W60R|ZNF211_ENST00000254182.7_5'UTR|ZNF211_ENST00000347302.3_Missense_Mutation_p.W47R			Q13398	ZN211_HUMAN	zinc finger protein 211	47	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTGGGAGGAATGGGATCTCCT	0.483000													41	41					0	0	0.008740	0	0
ZNF761	388561	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	by1000genomes	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:53945909T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCCTGACTCTGCCTGAGGCC	0.562000													3	28					0	0	0.000248	0	0
FCGBP	8857	broad.mit.edu	37	19	40424418	40424418	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:40424418C>T	ENST00000221347.6	-	4	1792	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	595	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCTGAGTGCCAGCTGGCAGT	0.632000													12	36					0	0	0.000978	0	0
GRIN1	2902	broad.mit.edu	37	9	140040183	140040183	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:140040183C>T	ENST00000371561.3	+	3	1496	c.399C>T	c.(397-399)atC>atT	p.I133I	GRIN1_ENST00000371559.4_Silent_p.I133I|GRIN1_ENST00000371550.4_Silent_p.I133I|GRIN1_ENST00000371560.3_Silent_p.I133I|GRIN1_ENST00000371546.4_Silent_p.I133I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Silent_p.I133I|GRIN1_ENST00000350902.5_Silent_p.I133I|GRIN1_ENST00000371555.4_Silent_p.I133I|GRIN1_ENST00000315048.3_Silent_p.I133I	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	133					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CGCAGAGCATCCACCTGAGCT	0.697000													15	17					0	0	0.007413	0	0
BCL2A1	597	broad.mit.edu	37	15	80253445	80253445	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:80253445G>A	ENST00000267953.3	-	2	818	c.492C>T	c.(490-492)atC>atT	p.I164I	BCL2A1_ENST00000335661.6_3'UTR	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	164					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						GCATTTCACAGATCTTTCCTG	0.353000													14	15					0	0	0.002450	0	0
RYR3	6263	broad.mit.edu	37	15	33925182	33925182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:33925182C>T	ENST00000389232.4	+	24	2970	c.2900C>T	c.(2899-2901)cCt>cTt	p.P967L	RYR3_ENST00000415757.3_Missense_Mutation_p.P967L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	967	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGCCAGCCCCTTTGGATTTG	0.368000													24	70					0	0	0.008361	0	0
XDH	7498	broad.mit.edu	37	2	31560586	31560586	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:31560586A>G	ENST00000379416.3	-	35	3920	c.3872T>C	c.(3871-3873)gTg>gCg	p.V1291A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1291					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAGTTCCTTCACGTTATTACC	0.567000													52	36					0	0	0.003610	0	0
PLAG1	5324	broad.mit.edu	37	8	57079149	57079149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:57079149G>A	ENST00000316981.3	-	5	1635	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	PLAG1_ENST00000429357.2_Missense_Mutation_p.P386S|PLAG1_ENST00000423799.2_Missense_Mutation_p.P304S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	386	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CCAATCTGAGGATCCAACCCT	0.483000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								70	48					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152275690	152275690	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:152275690G>A	ENST00000368799.1	-	3	11707	c.11672C>T	c.(11671-11673)tCt>tTt	p.S3891F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3891	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCCCGAGAAGATCCATG	0.547000									Ichthyosis				33	64					0	0	0.002836	0	0
SNTG2	54221	broad.mit.edu	37	2	1243529	1243529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:1243529G>A	ENST00000308624.5	+	11	998	c.869G>A	c.(868-870)tGc>tAc	p.C290Y	SNTG2_ENST00000407292.1_Missense_Mutation_p.C163Y	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	290					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCGAACAAATGCTGCTCTCCT	0.478000													9	17					0	0	0.008291	0	0
EIF3B	8662	broad.mit.edu	37	7	2418375	2418375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:2418375C>T	ENST00000360876.4	+	16	2262	c.2206C>T	c.(2206-2208)Cgt>Tgt	p.R736C	EIF3B_ENST00000397011.2_Missense_Mutation_p.R736C	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	736					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ACAGAAGGATCGTTTGAGTCA	0.458000													18	13					0	0	0.006122	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163504	32163504	+	RNA	SNP	C	C	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:32163504C>A	ENST00000564145.1	-	0	65																											TGATTTTGCCCTTCGGGGTGA	0.532000													17	81					2.08468e-23	2.47597e-23	0.001882	1	0
VEPH1	79674	broad.mit.edu	37	3	157178109	157178109	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:157178109G>A	ENST00000362010.2	-	4	697	c.390C>T	c.(388-390)atC>atT	p.I130I	VEPH1_ENST00000468233.1_Silent_p.I130I|VEPH1_ENST00000494677.1_Silent_p.I130I|VEPH1_ENST00000392832.2_Silent_p.I130I|VEPH1_ENST00000543418.1_Silent_p.I130I|VEPH1_ENST00000537559.1_Silent_p.I130I|VEPH1_ENST00000392833.2_Silent_p.I130I	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	130						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTGCAATGGGGATGGCTAATG	0.423000													37	29					0	0	0.003755	0	0
A2M	2	broad.mit.edu	37	12	9265130	9265130	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:9265130G>A	ENST00000318602.7	-	3	580	c.273C>T	c.(271-273)gtC>gtT	p.V91V		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	91					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AAGACTTTGGGACCTGAAATA	0.493000													6	36					0	0	0.001984	0	0
EPHA6	285220	broad.mit.edu	37	3	97466295	97466295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:97466295G>A	ENST00000389672.5	+	17	3195	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	958						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						TGAAGTTCCGGAATATCCTTT	0.398000													5	12					0	0	0.000602	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425174	71425174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:71425174C>T	ENST00000373657.1	-	3	3676	c.3074G>A	c.(3073-3075)gGa>gAa	p.G1025E	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.G1148E			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1148					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CAGTGTTTCTCCGGAAGGATC	0.502000													43	5					0	0	0.008740	0	0
APOB	338	broad.mit.edu	37	2	21250882	21250882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:21250882C>T	ENST00000233242.1	-	14	2012	c.1885G>A	c.(1885-1887)Gac>Aac	p.D629N	APOB_ENST00000399256.4_Missense_Mutation_p.D629N	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	629	Vitellogenin.				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)	TTTCTGAAGTCCATGACAGTT	0.363000													116	321					0	0	0.003610	0	0
BAGE2	85319	broad.mit.edu	37	21	11039402	11039402	+	RNA	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr21:11039402G>A	ENST00000470054.1	-	0	801									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)		AGCCTCATTAGAAATCTGTTT	0.299000													11	112					0	0	0.008291	0	0
PRR4	11272	broad.mit.edu	37	12	10999753	10999753	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:10999753G>T	ENST00000228811.4	-	3	351	c.314C>A	c.(313-315)cCc>cAc	p.P105H	PRR4_ENST00000540107.1_Silent_p.T47T|PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000544994.1_Intron	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	105					visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						AGGAAATCGGGGTAGAGAGAG	0.537000													92	120					2.41567e-30	2.87824e-30	0.003610	1	0
KRT32	3882	broad.mit.edu	37	17	39620632	39620632	+	Missense_Mutation	SNP	G	G	A	rs147094229		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:39620632G>A	ENST00000225899.3	-	4	875	c.772C>T	c.(772-774)Ccg>Tcg	p.P258S		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	258	Linker 12.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AGGTCCACCGGGGGTGCAGCG	0.577000													15	16					0	0	0.003163	0	0
ERBB4	2066	broad.mit.edu	37	2	212652844	212652844	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:212652844G>A	ENST00000342788.4	-	4	772	c.462C>T	c.(460-462)ttC>ttT	p.F154F	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Silent_p.F154F|ERBB4_ENST00000402597.1_Silent_p.F154F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	154					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CATAACAAAGGAATTTGTTCT	0.353000										TSP Lung(8;0.080)			19	15					0	0	0.006122	0	0
PDE8B	8622	broad.mit.edu	37	5	76645262	76645262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:76645262G>A	ENST00000264917.5	+	8	940	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	PDE8B_ENST00000333194.4_Missense_Mutation_p.E299K|PDE8B_ENST00000342343.4_Missense_Mutation_p.E279K|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	299	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCCAGCCTTCGAAAGGATGAT	0.502000													62	161					0	0	0.003610	0	0
PALLD	23022	broad.mit.edu	37	4	169630191	169630191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:169630191C>T	ENST00000335742.7	+	9	1725	c.368C>T	c.(367-369)aCc>aTc	p.T123I	PALLD_ENST00000505667.1_Missense_Mutation_p.T505I|PALLD_ENST00000512127.1_Missense_Mutation_p.T123I|PALLD_ENST00000261509.6_Missense_Mutation_p.T505I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	505					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAGATTTGCACCCTAGTTATC	0.443000									Pancreatic Cancer, Familial Clustering of				13	91					0	0	0.001855	0	0
OR5D18	219438	broad.mit.edu	37	11	55587294	55587294	+	Silent	SNP	C	C	T	rs145410438		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:55587294C>T	ENST00000333976.4	+	1	209	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F63F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGTACTTTTTCCTCAGCCAAC	0.418000													80	123					0	0	0.003610	0	0
AGXT	189	broad.mit.edu	37	2	241808385	241808385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:241808385C>T	ENST00000307503.3	+	1	490	c.103C>T	c.(103-105)Cct>Tct	p.P35S		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	35					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAACCTGCCTCCTCGCATCAT	0.657000													22	40					0	0	0.007291	0	0
MYO5B	4645	broad.mit.edu	37	18	47480796	47480796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:47480796C>T	ENST00000285039.7	-	13	1854	c.1555G>A	c.(1555-1557)Gga>Aga	p.G519R		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	519	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGTCAGTTCCTTTGGGGACC	0.577000													30	38					0	0	0.001786	0	0
SLIT2	9353	broad.mit.edu	37	4	20493457	20493457	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:20493457C>T	ENST00000504154.1	+	9	1101	c.849C>T	c.(847-849)atC>atT	p.I283I	SLIT2_ENST00000273739.5_Silent_p.I287I|SLIT2_ENST00000503837.1_Silent_p.I287I|SLIT2_ENST00000503823.1_Silent_p.I283I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	283	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCAACAATATCGTAGACTGTC	0.433000													52	73					0	0	0.003610	0	0
ZNF48	197407	broad.mit.edu	37	16	30410313	30410313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:30410313G>A	ENST00000320159.2	+	2	2118	c.1742G>A	c.(1741-1743)gGt>gAt	p.G581D		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AAGGGTTTTGGTGACAGTTCT	0.597000													50	71					0	0	0.003610	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350739	134350739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:134350739C>T	ENST00000275230.5	-	2	379	c.224G>A	c.(223-225)aGc>aAc	p.S75N		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	75						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CTCATGGCAGCTCAGGGCTAA	0.527000													34	5					0	0	0.002445	0	0
TECRL	253017	broad.mit.edu	37	4	65175549	65175549	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:65175549T>C	ENST00000381210.3	-	6	762	c.652A>G	c.(652-654)Ata>Gta	p.I218V	TECRL_ENST00000507440.1_Missense_Mutation_p.I218V|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	218					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.I218L(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTCACCATTATCAAATTTTTC	0.333000													60	55					0	0	0.003610	0	0
SORBS1	10580	broad.mit.edu	37	10	97096831	97096831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:97096831G>A	ENST00000371247.2	-	30	3275	c.3086C>T	c.(3085-3087)cCc>cTc	p.P1029L	SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P983L|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P1029L|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000306402.6_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1029					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGACAGGGAGGGACTGGCCCT	0.592000													36	6					0	0	0.005524	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936747	119936747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:119936747G>A	ENST00000297350.4	-	5	1450	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	358	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACAGTTTTGGGAAAGTGGTAC	0.413000													89	81					0	0	0.003610	0	0
RC3H2	54542	broad.mit.edu	37	9	125617595	125617595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:125617595G>A	ENST00000373670.1	-	14	3283	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	RC3H2_ENST00000357244.2_Missense_Mutation_p.P895S|RC3H2_ENST00000423239.2_Missense_Mutation_p.P895S			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	895						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCACTAAAGGGAATTATTGGA	0.433000													17	9					0	0	0.004007	0	0
NXF3	56000	broad.mit.edu	37	X	102339395	102339395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:102339395G>A	ENST00000395065.3	-	3	327	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	76						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTGCCTTTCCGATTATAGGGT	0.433000													22	39					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179611959	179611959	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:179611959C>T	ENST00000360870.5	-	46	15390	c.15168G>A	c.(15166-15168)ggG>ggA	p.G5056G	TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1163	Ig-like 31.						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)			CTAGTGTCTCCCCTGGGGGTG	0.498000													27	46					0	0	0.005443	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		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.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(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)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_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				47	25					0	0	0.003610	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401833	139401833	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:139401833G>A	ENST00000277541.6	-	22	3642	c.3567C>T	c.(3565-3567)tcC>tcT	p.S1189S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1189	EGF-like 31; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCAGGGGTGGGAGAGGCACT	0.687000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	9					0	0	0.001168	0	0
RGS12	6002	broad.mit.edu	37	4	3318942	3318942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:3318942C>T	ENST00000336727.3	+	2	1949	c.1045C>T	c.(1045-1047)Cac>Tac	p.H349Y	RGS12_ENST00000543385.1_Missense_Mutation_p.H349Y|RGS12_ENST00000382788.3_Missense_Mutation_p.H349Y|RGS12_ENST00000344733.5_Missense_Mutation_p.H349Y	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	349						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTTTAATCACAAGATCCA	0.607000													36	101					0	0	0.003271	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12847412	12847412	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:12847412G>C	ENST00000379672.5	+	10	1060	c.760G>C	c.(760-762)Ggg>Cgg	p.G254R	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.G254R|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.G254R	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	254					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCCTTCCTTCGGGAAGCCGCT	0.587000													10	14					0	0	0.008291	0	0
PI4KA	5297	broad.mit.edu	37	22	21073016	21073016	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:21073016G>A	ENST00000255882.6	-	44	5297	c.5211C>T	c.(5209-5211)ttC>ttT	p.F1737F	PI4KA_ENST00000414196.3_Silent_p.F489F|PI4KA_ENST00000572273.1_Silent_p.F1679F	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1679	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity).				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCTTGTTAAAGAAATCAAACT	0.512000													38	53					0	0	0.006230	0	0
C6orf222	389384	broad.mit.edu	37	6	36287321	36287321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:36287321C>T	ENST00000437635.2	-	11	1912	c.1735G>A	c.(1735-1737)Gta>Ata	p.V579I		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	579										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGGGTGGCTACCAGCTTGCTG	0.517000													40	53					0	0	0.002222	0	0
NPLOC4	55666	broad.mit.edu	37	17	79539070	79539070	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:79539070G>A	ENST00000374747.5	-	13	1455	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P	NPLOC4_ENST00000539314.1_Silent_p.P281P|NPLOC4_ENST00000331134.6_Silent_p.P442P			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	442					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCACAGGCAGGGGCCGGGCCA	0.562000													8	23					0	0	0.003080	0	0
NELL1	4745	broad.mit.edu	37	11	21592418	21592418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:21592418C>T	ENST00000298925.5	+	19	2326	c.2173C>T	c.(2173-2175)Caa>Taa	p.Q725*	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Nonsense_Mutation_p.Q650*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.Q640*|NELL1_ENST00000357134.5_Nonsense_Mutation_p.Q697*			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	697	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ATGTTTAGACCAAAATGGTCA	0.473000													67	79					0	0	0.003610	0	0
FAM53C	51307	broad.mit.edu	37	5	137680705	137680705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:137680705C>T	ENST00000239906.5	+	4	756	c.328C>T	c.(328-330)Cct>Tct	p.P110S	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.P110S|FAM53C_ENST00000513056.1_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	110										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCTGTGCCCCCTGCCCCTCC	0.662000													29	50					0	0	0.006320	0	0
SORL1	6653	broad.mit.edu	37	11	121428069	121428069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:121428069C>T	ENST00000260197.7	+	19	2747	c.2618C>T	c.(2617-2619)tCt>tTt	p.S873F		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	873					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTCAATTCCTCTGTGCTTGAT	0.507000													36	17					0	0	0.006999	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375235	8375235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:8375235G>A	ENST00000538603.1	-	7	1136	c.578C>T	c.(577-579)tCc>tTc	p.S193F	FAM90A1_ENST00000307435.6_Missense_Mutation_p.S193F	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	193							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ACTTGAGGAGGAGCTCAGACT	0.597000													36	43					0	0	0.006999	0	0
BAI3	577	broad.mit.edu	37	6	70042883	70042883	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:70042883G>A	ENST00000370598.1	+	24	3992	c.3171G>A	c.(3169-3171)aaG>aaA	p.K1057K	BAI3_ENST00000546190.1_Silent_p.K21K|BAI3_ENST00000238918.8_Silent_p.K263K	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1057					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TAGATAAAAAGCTCAAACACA	0.383000													13	18					0	0	0.001368	0	0
STAT6	6778	broad.mit.edu	37	12	57502002	57502002	+	Silent	SNP	G	G	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:57502002G>C	ENST00000300134.3	-	2	385	c.60C>G	c.(58-60)gtC>gtG	p.V20V	STAT6_ENST00000543873.2_Silent_p.V20V|STAT6_ENST00000537215.2_Intron|STAT6_ENST00000454075.3_Silent_p.V20V|STAT6_ENST00000556155.1_Silent_p.V20V|STAT6_ENST00000538913.2_Intron	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	20					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGGGAAAGTCGACATAGAGCC	0.577000													5	20					0	0	0.001984	0	0
BCL2L15	440603	broad.mit.edu	37	1	114424487	114424487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:114424487G>A	ENST00000393316.3	-	3	553	c.382C>T	c.(382-384)Cct>Tct	p.P128S	AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000488450.1_5'UTR|BCL2L15_ENST00000471267.1_Intron	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	128					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTACTTCAGGAGCAATGTGA	0.512000													15	20					0	0	0.006122	0	0
FAM83B	222584	broad.mit.edu	37	6	54806429	54806429	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:54806429C>A	ENST00000306858.7	+	5	2776	c.2660C>A	c.(2659-2661)cCa>cAa	p.P887Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	887										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCCTCTGCCCCAAGATTTAAC	0.448000													35	33					3.33393e-15	3.94715e-15	0.004878	1	0
GAD1	2571	broad.mit.edu	37	2	171716242	171716242	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:171716242G>A	ENST00000358196.3	+	17	2185	c.1635G>A	c.(1633-1635)ctG>ctA	p.L545L		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	545					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCAAAGCCCTGATGATGGAGT	0.483000													19	14					0	0	0.008871	0	0
WDR65	149465	broad.mit.edu	37	1	43647397	43647397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:43647397C>T	ENST00000372492.4	+	3	674	c.350C>T	c.(349-351)cCa>cTa	p.P117L	WDR65_ENST00000528956.1_Missense_Mutation_p.P117L	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	117										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTTTTTCTCCAGACTCCAAA	0.403000													30	67					0	0	0.007291	0	0
CADM2	253559	broad.mit.edu	37	3	85935391	85935391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:85935391G>A	ENST00000383699.3	+	5	1070	c.443G>A	c.(442-444)gGt>gAt	p.G148D	CADM2_ENST00000407528.2_Missense_Mutation_p.G139D|CADM2_ENST00000405615.2_Missense_Mutation_p.G141D	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	139	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTTATGGAGGGTGACTTGATG	0.383000													10	29					0	0	0.008291	0	0
PNPLA8	50640	broad.mit.edu	37	7	108142951	108142951	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:108142951C>A	ENST00000426128.2	-	4	1467	c.1342G>T	c.(1342-1344)Gat>Tat	p.D448Y	PNPLA8_ENST00000388728.5_Missense_Mutation_p.D448Y|PNPLA8_ENST00000453144.1_Missense_Mutation_p.D348Y|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000422087.1_Missense_Mutation_p.D448Y|PNPLA8_ENST00000257694.8_Missense_Mutation_p.D448Y|PNPLA8_ENST00000436062.1_Missense_Mutation_p.D448Y	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	448	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CCTCCACCATCAATTGAGAGA	0.398000													73	36					9.13743e-30	1.08756e-29	0.003610	1	0
TLR3	7098	broad.mit.edu	37	4	187004681	187004681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:187004681C>T	ENST00000296795.2	+	4	1945	c.1841C>T	c.(1840-1842)tCa>tTa	p.S614L	TLR3_ENST00000504367.1_Missense_Mutation_p.S337L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	614					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCTCTAAAGTCATTGAACCTT	0.368000													30	19					0	0	0.002836	0	0
RFX1	5989	broad.mit.edu	37	19	14083763	14083763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:14083763G>A	ENST00000254325.4	-	9	1340	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	369					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			AGTGCTGGTGGAGCTGGCGAC	0.746000													3	12					0	0	0.004672	0	0
MDN1	23195	broad.mit.edu	37	6	90424464	90424464	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:90424464G>A	ENST00000369393.3	-	46	6982	c.6867C>T	c.(6865-6867)ttC>ttT	p.F2289F	MDN1_ENST00000428876.1_Silent_p.F2289F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2289					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCATCGAGAGGAAAAGTCTAG	0.428000													13	43					0	0	0.001855	0	0
MYOC	4653	broad.mit.edu	37	1	171605430	171605430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:171605430C>T	ENST00000037502.5	-	3	1209	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	384	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CCTGCTTCATCCACAGCCAAG	0.532000													26	60					0	0	0.003954	0	0
ABCB8	11194	broad.mit.edu	37	7	150732708	150732708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:150732708C>T	ENST00000358849.4	+	6	899	c.806C>T	c.(805-807)tCc>tTc	p.S269F	ABCB8_ENST00000477092.1_Missense_Mutation_p.S269F|ABCB8_ENST00000356058.4_Missense_Mutation_p.S306F|ABCB8_ENST00000498578.1_Missense_Mutation_p.S269F|ABCB8_ENST00000477719.1_Missense_Mutation_p.S269F|ABCB8_ENST00000542328.1_Missense_Mutation_p.S181F|ABCB8_ENST00000297504.6_Missense_Mutation_p.S286F	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	286	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCCTGGTGTCCCTGTCCATG	0.647000													51	26					0	0	0.003610	0	0
FAT1	2195	broad.mit.edu	37	4	187549725	187549725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:187549725G>A	ENST00000441802.2	-	8	4725	c.4516C>T	c.(4516-4518)Cgt>Tgt	p.R1506C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1506	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGATCAAGACGAAATTTCTTG	0.463000										HNSCC(5;0.00058)			16	20					0	0	0.003163	0	0
HTR5A	3361	broad.mit.edu	37	7	154875939	154875939	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:154875939G>A	ENST00000287907.2	+	2	1392	c.816G>A	c.(814-816)ggG>ggA	p.G272G	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	272						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AGCCAGAAGGGGACACGTGGC	0.602000													40	16					0	0	0.006230	0	0
CNR1	1268	broad.mit.edu	37	6	88853935	88853935	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:88853935G>A	ENST00000537554.1	-	2	4621	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	CNR1_ENST00000369501.2_Silent_p.I353I|CNR1_ENST00000369499.2_Silent_p.I353I|CNR1_ENST00000468898.1_Silent_p.I320I|CNR1_ENST00000535130.1_Silent_p.I353I|CNR1_ENST00000549890.1_Silent_p.I353I|CNR1_ENST00000549716.1_Silent_p.I292I|CNR1_ENST00000428600.2_Silent_p.I353I|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	353					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CCCAGCAGATGATCAACACCA	0.527000													26	111					0	0	0.003330	0	0
TRPC5	7224	broad.mit.edu	37	X	111155741	111155741	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:111155741C>T	ENST00000262839.2	-	3	1596	c.678G>A	c.(676-678)gaG>gaA	p.E226E		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	226					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTCCTTGAGCTCCCAGCCCA	0.552000													116	20					0	0	0.003610	0	0
HIF3A	64344	broad.mit.edu	37	19	46838214	46838214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:46838214C>T	ENST00000339613.2	+	14	1970	c.1715C>T	c.(1714-1716)aCc>aTc	p.T572I	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.T559I|HIF3A_ENST00000472815.1_Missense_Mutation_p.T415I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T559I|HIF3A_ENST00000420102.2_Missense_Mutation_p.T577I|HIF3A_ENST00000300862.3_Missense_Mutation_p.T626I|HIF3A_ENST00000377670.4_Missense_Mutation_p.T628I			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	628	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GACCCCAGCACCCCACTCCTG	0.597000													26	32					0	0	0.005443	0	0
PKDCC	91461	broad.mit.edu	37	2	42284396	42284396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:42284396G>A	ENST00000294964.5	+	6	1438	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	PKDCC_ENST00000480099.1_3'UTR	NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	420	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						CATCCCCCAGGAAGACTACCG	0.557000													63	54					0	0	0.003610	0	0
ARGFX	503582	broad.mit.edu	37	3	121289566	121289566	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:121289566G>A	ENST00000334384.3	+	1	16	c.6G>A	c.(4-6)agG>agA	p.R2R		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	2						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)		AAACCATGAGGAACAGAATGG	0.473000													27	31					0	0	0.007291	0	0
FAM83B	222584	broad.mit.edu	37	6	54806270	54806270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:54806270C>T	ENST00000306858.7	+	5	2617	c.2501C>T	c.(2500-2502)tCc>tTc	p.S834F		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	834	Poly-Ser.									autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAGCATTCTTCCTCATCGAAT	0.378000													7	31					0	0	0.001984	0	0
ABCA6	23460	broad.mit.edu	37	17	67094154	67094154	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:67094154G>A	ENST00000284425.2	-	23	3201	c.3027C>T	c.(3025-3027)ctC>ctT	p.L1009L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1009					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACCCAGTCCAGAGTCCTATGT	0.348000													15	33					0	0	0.004007	0	0
LRP1B	53353	broad.mit.edu	37	2	141777598	141777598	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:141777598C>T	ENST00000389484.3	-	12	2834	c.1863G>A	c.(1861-1863)agG>agA	p.R621R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	621					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)		TAATGGTTTTCCTATGGCCAT	0.418000										TSP Lung(27;0.18)			26	60					0	0	0.008361	0	0
GPR171	29909	broad.mit.edu	37	3	150916724	150916724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:150916724C>T	ENST00000309180.5	-	3	680	c.450G>A	c.(448-450)atG>atA	p.M150I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	150						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGGAATCATCATATTTGGCA	0.378000													30	27					0	0	0.002096	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072798	17072798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:17072798C>T	ENST00000359963.3	-	1	902	c.643G>A	c.(643-645)Gat>Aat	p.D215N		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	215					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGCAGGAATCCTCCAGTGTC	0.612000													15	86					0	0	0.004990	0	0
DPEP1	1800	broad.mit.edu	37	16	89703949	89703949	+	Missense_Mutation	SNP	C	C	T	rs139832614		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:89703949C>T	ENST00000393092.3	+	8	1133	c.842C>T	c.(841-843)tCc>tTc	p.S281F	DPEP1_ENST00000261615.4_Missense_Mutation_p.S281F|DPEP1_ENST00000421184.1_Missense_Mutation_p.S281F	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	281					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GCCAACCTGTCCCAAGTGGCC	0.577000													28	71					0	0	0.005443	0	0
CRYBB2	1415	broad.mit.edu	37	22	25623851	25623851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:25623851G>A	ENST00000398215.2	+	4	376	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	69	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CAACTGCAAGGGCGAGCAGTT	0.587000													53	93					0	0	0.003610	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020361	73020361	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:73020361G>A	ENST00000263674.3	+	1	1028	c.678G>A	c.(676-678)ggG>ggA	p.G226G	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	226					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGCAGGCCGGGGCCCGGGCCT	0.692000													24	38					0	0	0.003954	0	0
IPO8	10526	broad.mit.edu	37	12	30833476	30833476	+	Silent	SNP	G	G	A	rs112676658		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:30833476G>A	ENST00000256079.4	-	5	917	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	193					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AATAATAGGAGGAATCAGGAA	0.363000													28	106					0	0	0.001786	0	0
KIF3A	11127	broad.mit.edu	37	5	132056301	132056301	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:132056301G>A	ENST00000378746.4	-	5	834	c.616_splice	c.e5+1	p.R206_splice	KIF3A_ENST00000378735.1_Splice_Site_p.R206_splice|KIF3A_ENST00000403231.1_Splice_Site_p.R206_splice|AC004237.1_ENST00000431165.1_RNA	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	206	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	p.R206C(2)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATACTTACGATTTTTGTGG	0.363000													9	7					0	0	0.004482	0	0
DDX24	57062	broad.mit.edu	37	14	94526797	94526797	+	Silent	SNP	G	G	A	rs150012797	byFrequency	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:94526797G>A	ENST00000330836.5	-	5	1691	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	DDX24_ENST00000555054.1_Silent_p.I477I|DDX24_ENST00000544005.1_Silent_p.I270I	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	520	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCTTATGAAGGATTCGAGCAG	0.468000													83	24					0	0	0.003610	0	0
TNR	7143	broad.mit.edu	37	1	175375835	175375835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:175375835C>T	ENST00000367674.1	-	3	724	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	TNR_ENST00000263525.2_Missense_Mutation_p.E6K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	6					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCACTGTTTCCCCATCTGCC	0.532000													55	32					0	0	0.003610	0	0
ODC1	4953	broad.mit.edu	37	2	10580980	10580980	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:10580980T>C	ENST00000234111.4	-	12	1766	c.1256A>G	c.(1255-1257)cAa>cGa	p.Q419R	ODC1_ENST00000405333.1_Missense_Mutation_p.Q419R	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	419					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	GTTCTGGAATTGCTGCATGAG	0.498000													29	54					0	0	0.001786	0	0
BCL9L	283149	broad.mit.edu	37	11	118773008	118773008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:118773008G>A	ENST00000334801.3	-	6	2408	c.1444C>T	c.(1444-1446)Ccc>Tcc	p.P482S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	482	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCCAGCGGGGGGCCCCCTAGG	0.647000													48	66					0	0	0.003610	0	0
CDHR3	222256	broad.mit.edu	37	7	105658498	105658498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:105658498G>A	ENST00000542731.1	+	12	1741	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.E457K|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.E545K			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	545	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CACCAACAACGAAGACACAAG	0.493000													8	30					0	0	0.006214	0	0
MKNK1	8569	broad.mit.edu	37	1	47027158	47027158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:47027158C>T	ENST00000371946.4	-	12	1283	c.1120G>A	c.(1120-1122)Gtg>Atg	p.V374M	MKNK1_ENST00000371945.4_Missense_Mutation_p.V333M|MKNK1_ENST00000371944.4_Missense_Mutation_p.V238M|MKNK1_ENST00000341183.5_Missense_Mutation_p.V333M|MKNK1_ENST00000428112.2_Missense_Mutation_p.V333M|MKNK1-AS1_ENST00000602433.1_RNA	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	374	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					ACCCCCTGCACCCATGGGTGC	0.587000													11	19					0	0	0.000978	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763875	14763875	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:14763875G>A	ENST00000358984.4	+	7	1191	c.1011G>A	c.(1009-1011)agG>agA	p.R337R	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.R337R	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	337										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAACACCTAGGAAAATTTTGA	0.418000													3	10					0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9086535	9086535	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:9086535C>T	ENST00000397910.4	-	1	5483	c.5280G>A	c.(5278-5280)gtG>gtA	p.V1760V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1760	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						CTATGAATTCCACATCAGGAG	0.498000													16	58					0	0	0.003163	0	0
PDE2A	5138	broad.mit.edu	37	11	72294558	72294558	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:72294558G>A	ENST00000334456.5	-	20	1897	c.1650_splice	c.e20-1	p.S551_splice	PDE2A_ENST00000540345.1_Splice_Site_p.S542_splice|PDE2A_ENST00000444035.2_Splice_Site_p.S542_splice|PDE2A_ENST00000376450.3_Splice_Site_p.S295_splice|PDE2A_ENST00000418754.2_Splice_Site_p.S436_splice|PDE2A_ENST00000544570.1_Splice_Site_p.S544_splice	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	551					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GTATAGGAGAGACTAGGGGAA	0.498000													151	217					0	0	0.003610	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656921	8656921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:8656921G>A	ENST00000270328.4	-	13	1920	c.1654C>T	c.(1654-1656)Ccg>Tcg	p.P552S	ADAMTS10_ENST00000595838.1_Silent_p.G42G|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P552S			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	552	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGAGTCCACGGCCCCCAGGCT	0.682000													23	9					0	0	0.004656	0	0
OR51A4	401666	broad.mit.edu	37	11	4968057	4968057	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:4968057G>T	ENST00000380373.2	-	1	299	c.274C>A	c.(274-276)Cct>Act	p.P92T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAATTTCAGGAGCATTGAAC	0.423000													62	70					5.82089e-37	6.94292e-37	0.003610	1	0
VWA3B	200403	broad.mit.edu	37	2	98846523	98846523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:98846523G>A	ENST00000477737.1	+	16	2365	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	721								p.E721K(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCATCAAAAGGAAATCTGTTC	0.358000													15	28					0	0	0.004007	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701304	195701304	+	RNA	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:195701304C>T	ENST00000427841.1	-	0	1520					NR_003264.2																						AGGGCACATGCCTGACCAGAC	0.572000													6	39					0	0	0.001984	0	0
PTPRC	5788	broad.mit.edu	37	1	198678823	198678823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:198678823G>A	ENST00000367376.2	+	11	1206	c.1035G>A	c.(1033-1035)atG>atA	p.M345I	PTPRC_ENST00000348564.6_Missense_Mutation_p.M186I|PTPRC_ENST00000594404.1_Missense_Mutation_p.M184I|PTPRC_ENST00000352140.3_Missense_Mutation_p.M297I|PTPRC_ENST00000442510.2_Missense_Mutation_p.M347I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	345					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGGTAATATGATATTTGATA	0.254000													12	17					0	0	0.000978	0	0
SYT4	6860	broad.mit.edu	37	18	40853629	40853629	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:40853629C>T	ENST00000255224.3	-	2	1133	c.765G>A	c.(763-765)ggG>ggA	p.G255G	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.G237G	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	255	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTAGAACTTCCCCAATGATAT	0.353000													18	25					0	0	0.004990	0	0
PTPRT	11122	broad.mit.edu	37	20	41306689	41306689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:41306689C>T	ENST00000373198.3	-	7	1205	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PTPRT_ENST00000356100.2_Missense_Mutation_p.E324K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E324K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	324	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TATTCCACTTCCTTCAGGATG	0.567000													19	87					0	0	0.001523	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514357	113514357	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:113514357C>T	ENST00000541405.1	-	4	619	c.96G>A	c.(94-96)agG>agA	p.R32R	CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000302450.6_Silent_p.R197R			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	197						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GATCTGGCTTCCTCTCAGGTT	0.338000													22	26					0	0	0.001523	0	0
COL11A1	1301	broad.mit.edu	37	1	103388915	103388915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:103388915C>T	ENST00000358392.2	-	47	3984	c.3667G>A	c.(3667-3669)Gaa>Aaa	p.E1223K	COL11A1_ENST00000512756.1_Missense_Mutation_p.E1095K|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1211K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1172K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1211	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)		TCCCCATTTTCACCTTTTTCA	0.343000													4	8					0	0	0.000248	0	0
UBXN10	127733	broad.mit.edu	37	1	20517764	20517764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:20517764G>A	ENST00000375099.3	+	2	794	c.710G>A	c.(709-711)cGa>cAa	p.R237Q		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	237	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						ACCTCCTACCGACACTGCAGC	0.502000													48	50					0	0	0.003214	0	0
SELP	6403	broad.mit.edu	37	1	169578921	169578921	+	Missense_Mutation	SNP	G	G	A	rs3917742	byFrequency	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:169578921G>A	ENST00000263686.6	-	8	1191	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	SELP_ENST00000367794.2_Missense_Mutation_p.S323L|SELP_ENST00000367793.2_Missense_Mutation_p.S323L|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.S323L|SELP_ENST00000367792.2_Missense_Mutation_p.S323L|SELP_ENST00000367788.2_Missense_Mutation_p.S323L|SELP_ENST00000367786.2_Missense_Mutation_p.S323L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	385	Sushi 4.		S -> L (in dbSNP:rs3917742).		platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGGCTCACACGAAATAGCTAA	0.478000													23	14					0	0	0.002780	0	0
PXDC1	221749	broad.mit.edu	37	6	3727860	3727860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:3727860G>A	ENST00000380283.4	-	4	997	c.503C>T	c.(502-504)aCc>aTc	p.T168I	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	CF145_HUMAN	PX domain containing 1	168					cell communication		phosphatidylinositol binding										TATTGTTTCGGTATTTGCTAA	0.438000													27	42					0	0	0.002096	0	0
WRN	7486	broad.mit.edu	37	8	30969258	30969258	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:30969258T>C	ENST00000298139.5	+	19	2465	c.2216T>C	c.(2215-2217)gTt>gCt	p.V739A		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	739					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TATTTAGAAGTTAGGCGAAAA	0.383000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				16	45					0	0	0.004990	0	0
RTN1	6252	broad.mit.edu	37	14	60212874	60212874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:60212874C>T	ENST00000267484.5	-	2	902	c.567G>A	c.(565-567)atG>atA	p.M189I		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	189					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCTCTGCTTTCATCTGGTCCA	0.458000													63	65					0	0	0.003610	0	0
ZNF768	79724	broad.mit.edu	37	16	30535882	30535882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:30535882C>T	ENST00000380412.5	-	2	1754	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	ZNF768_ENST00000562803.1_Missense_Mutation_p.D496N	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	527					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CGGATGAGGTCGGAGCTCTGG	0.682000													18	37					0	0	0.008871	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29906672	29906672	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:29906672C>G	ENST00000308713.5	-	5	1288	c.761G>C	c.(760-762)gGa>gCa	p.G254A	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G210A|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G184A	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	254	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGGACTTGTCCTTCTCCAAG	0.632000													33	119					0	0	0.002836	0	0
BAGE2	85319	broad.mit.edu	37	21	11039421	11039421	+	RNA	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	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													7	94					0	0	0.001984	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140803070	140803070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:140803070C>T	ENST00000398587.2	+	1	2309	c.2276C>T	c.(2275-2277)tCt>tTt	p.S759F	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGAGGTCTCTCTCATTGCG	0.567000													26	28					0	0	0.006320	0	0
PROM2	150696	broad.mit.edu	37	2	95954257	95954257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:95954257G>A	ENST00000317620.9	+	22	2494	c.2361G>A	c.(2359-2361)tgG>tgA	p.W787*	PROM2_ENST00000317668.4_Nonsense_Mutation_p.W787*|PROM2_ENST00000542147.1_Nonsense_Mutation_p.W738*|PROM2_ENST00000403131.2_Nonsense_Mutation_p.W787*	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	787						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCCTGGCATGGTGCACCTTCT	0.592000													19	54					0	0	0.001523	0	0
TLK2	11011	broad.mit.edu	37	17	60689781	60689781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:60689781G>A	ENST00000582809.1	+	23	2364	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	TLK2_ENST00000326270.9_Missense_Mutation_p.R725Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R703Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R671Q|TLK2_ENST00000542523.1_Missense_Mutation_p.R671Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	725	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTGGCCTACCGAAAGGAGGAC	0.537000													44	51					0	0	0.003610	0	0
ZNF560	147741	broad.mit.edu	37	19	9577647	9577647	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:9577647T>A	ENST00000301480.4	-	10	2189	c.1976A>T	c.(1975-1977)aAt>aTt	p.N659I		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTCACATGCATTACATTTATA	0.388000													41	33					0	0	0.007835	0	0
PHLDA1	22822	broad.mit.edu	37	12	76425374	76425374	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:76425374G>C	ENST00000266671.5	-	1	2338	c.148C>G	c.(148-150)Ccc>Gcc	p.P50A	PHLDA1_ENST00000602540.1_5'UTR			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	50					apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				TCACTGAAGGGCACTGGCCGG	0.721000													4	7					0	0	0.000248	0	0
RPE65	6121	broad.mit.edu	37	1	68910336	68910336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:68910336C>T	ENST00000262340.5	-	5	426	c.373G>A	c.(373-375)Gga>Aga	p.G125R		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	125					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ACCTCTACTCCTCGAAAGTAA	0.363000													25	26					0	0	0.003330	0	0
SNHG14	104472715	broad.mit.edu	37	15	25230394	25230394	+	RNA	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:25230394C>T	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						CATGGTTTTTCCTATCAGTAC	0.363000													12	11					0	0	0.000978	0	0
DNAH8	1769	broad.mit.edu	37	6	38851743	38851743	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:38851743A>T	ENST00000359357.3	+	54	7831	c.7577A>T	c.(7576-7578)aAt>aTt	p.N2526I	DNAH8_ENST00000449981.2_Missense_Mutation_p.N2743I|DNAH8_ENST00000441566.1_Missense_Mutation_p.N2490I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATGATATTAATATGCCTGTG	0.338000													26	30					0	0	0.004656	0	0
DIS3L2	129563	broad.mit.edu	37	2	233201320	233201320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:233201320G>T	ENST00000325385.7	+	21	2914	c.2638G>T	c.(2638-2640)Gag>Tag	p.E880*	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Nonsense_Mutation_p.E880*	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	880							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGGTGAGCCCGAGGACTCAAG	0.677000													10	9					5.16669e-11	6.09767e-11	0.000978	1	0
ZC3H4	23211	broad.mit.edu	37	19	47569895	47569895	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:47569895G>A	ENST00000253048.5	-	15	3667	c.3630C>T	c.(3628-3630)acC>acT	p.T1210T	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1210							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGTCCGTGGGGGTGCCCCCAT	0.697000													21	9					0	0	0.003954	0	0
PGAP1	80055	broad.mit.edu	37	2	197708730	197708730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:197708730G>A	ENST00000354764.3	-	25	2521	c.2407C>T	c.(2407-2409)Cgt>Tgt	p.R803C		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	803					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GCAGATAAACGAAGATGGTGT	0.353000													13	22					0	0	0.003163	0	0
HRG	3273	broad.mit.edu	37	3	186394992	186394992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:186394992C>T	ENST00000232003.4	+	7	978	c.898C>T	c.(898-900)Cct>Tct	p.P300S		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	300	Pro-rich.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ACCCCCACCTCCTCCAGATGA	0.532000													47	33					0	0	0.003610	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76389293	76389293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:76389293C>T	ENST00000307431.8	+	4	657	c.272C>T	c.(271-273)aCc>aTc	p.T91I	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.T95I|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T91I|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T67I	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	92	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGGAGGTCACCGCTGTGGCC	0.483000													13	46					0	0	0.001855	0	0
FSHB	2488	broad.mit.edu	37	11	30255338	30255338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:30255338G>A	ENST00000417547.1	+	3	420	c.381G>A	c.(379-381)atG>atA	p.M127I	FSHB_ENST00000254122.3_Missense_Mutation_p.M127I|FSHB_ENST00000533718.1_Missense_Mutation_p.M127I	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	127					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	TTGGTGAAATGAAAGAATAAA	0.512000													29	25					0	0	0.006320	0	0
NPY5R	4889	broad.mit.edu	37	4	164272439	164272439	+	Silent	SNP	G	G	A	rs144160203	byFrequency	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:164272439G>A	ENST00000515560.1	+	4	2536	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	NPY5R_ENST00000338566.3_Silent_p.E338E|NPY5R_ENST00000506953.1_Silent_p.E338E			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	338					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTTGCTTTGAGATAAAACCTG	0.388000													31	23					0	0	0.007291	0	0
PAPLN	89932	broad.mit.edu	37	14	73731380	73731380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:73731380G>A	ENST00000427855.1	+	22	3173	c.3071G>A	c.(3070-3072)gGg>gAg	p.G1024E	PAPLN_ENST00000381166.3_Missense_Mutation_p.G1024E|PAPLN_ENST00000340738.5_Missense_Mutation_p.G997E|PAPLN_ENST00000555445.1_Missense_Mutation_p.G1008E|PAPLN_ENST00000554301.1_Missense_Mutation_p.G1024E			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1024						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGCCAAGCGGGGGCTGCTGGG	0.657000													40	90					0	0	0.008740	0	0
MAP3K4	4216	broad.mit.edu	37	6	161523007	161523007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:161523007C>T	ENST00000392142.4	+	18	3906	c.3758C>T	c.(3757-3759)cCc>cTc	p.P1253L	MAP3K4_ENST00000348824.7_Missense_Mutation_p.P1199L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.P1249L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.P1203L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1253					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CACTCAAGCCCCACGGAGGAG	0.438000													17	7					0	0	0.006122	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723999	140723999	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:140723999C>T	ENST00000253812.6	+	1	399	c.399C>T	c.(397-399)ttC>ttT	p.F133F	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)			CTCCTAATTTCCCAACAGAGG	0.338000													7	30					0	0	0.003080	0	0
DLEC1	9940	broad.mit.edu	37	3	38087107	38087107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:38087107G>A	ENST00000308059.6	+	2	506	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	DLEC1_ENST00000452631.2_Missense_Mutation_p.R162Q|DLEC1_ENST00000346219.3_Missense_Mutation_p.R162Q			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	162					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCCCAAGCACGGGCTATTGCG	0.527000													28	61					0	0	0.001786	0	0
CSMD3	114788	broad.mit.edu	37	8	113318249	113318249	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:113318249G>A	ENST00000297405.5	-	51	8302	c.8058C>T	c.(8056-8058)acC>acT	p.T2686T	CSMD3_ENST00000352409.3_Silent_p.T2616T|CSMD3_ENST00000455883.2_Silent_p.T2582T|CSMD3_ENST00000343508.3_Silent_p.T2646T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2686	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACAGCGAGGGGTCTTGTTAT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			54	40					0	0	0.003610	0	0
MGAT4A	11320	broad.mit.edu	37	2	99272887	99272887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:99272887G>A	ENST00000393487.1	-	7	939	c.626C>T	c.(625-627)tCa>tTa	p.S209L	MGAT4A_ENST00000414521.2_Missense_Mutation_p.S81L|MGAT4A_ENST00000264968.2_Missense_Mutation_p.S209L|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000409391.1_Missense_Mutation_p.S209L	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	209					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						TTCAGGGGGTGATATGACTTC	0.373000													57	61					0	0	0.003610	0	0
NEB	4703	broad.mit.edu	37	2	152529052	152529052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:152529052G>A	ENST00000397345.3	-	37	4332	c.4130C>T	c.(4129-4131)aCc>aTc	p.T1377I	NEB_ENST00000409198.1_Missense_Mutation_p.T1377I|NEB_ENST00000427231.2_Missense_Mutation_p.T1377I|NEB_ENST00000603639.1_Missense_Mutation_p.T1377I|NEB_ENST00000604864.1_Missense_Mutation_p.T1377I|NEB_ENST00000172853.10_Missense_Mutation_p.T1377I	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1377					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTGGTTTTGGTGTTCTCATA	0.483000													29	65					0	0	0.006320	0	0
ENOSF1	55556	broad.mit.edu	37	18	683327	683327	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:683327G>A	ENST00000319815.6	-	3	1369	c.105C>T	c.(103-105)tcC>tcT	p.S35S	ENOSF1_ENST00000383578.3_Silent_p.S183S|ENOSF1_ENST00000340116.7_Silent_p.S286S|ENOSF1_ENST00000580982.1_Silent_p.S189S|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000251101.7_Silent_p.S265S			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	265					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TGGCCAGCTTGGACATCCACT	0.567000													56	125					0	0	0.003610	0	0
MERTK	10461	broad.mit.edu	37	2	112702606	112702606	+	Silent	SNP	C	C	T	rs148690514	byFrequency	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:112702606C>T	ENST00000295408.4	+	3	809	c.552C>T	c.(550-552)atC>atT	p.I184I	MERTK_ENST00000421804.2_Silent_p.I184I|MERTK_ENST00000409780.1_Silent_p.I8I			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	184	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATGAAGAGATCGTGTCTGATC	0.398000													8	20					0	0	0.004482	0	0
PSG1	5669	broad.mit.edu	37	19	43373139	43373139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:43373139C>T	ENST00000244296.2	-	4	894	c.757G>A	c.(757-759)Gag>Aag	p.E253K	PSG1_ENST00000595356.1_Missense_Mutation_p.E253K|PSG1_ENST00000595124.1_Missense_Mutation_p.E160K|PSG1_ENST00000436291.2_Missense_Mutation_p.E253K|PSG1_ENST00000403380.3_Missense_Mutation_p.E160K|PSG1_ENST00000312439.6_Missense_Mutation_p.E253K	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TCCTTATTCTCCCTGGGGTTT	0.488000													93	93					0	0	0.003610	0	0
ASAH2	56624	broad.mit.edu	37	10	52008287	52008287	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:52008287G>A	ENST00000395526.3	-	1	83	c.84C>T	c.(82-84)ctC>ctT	p.L28L	ASAH2_ENST00000447815.1_Silent_p.L28L|ASAH2_ENST00000329428.6_Silent_p.L9L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	28					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						ACAAGAGGCTGAGAAGGGCCA	0.448000													31	12					0	0	0.003755	0	0
RXFP2	122042	broad.mit.edu	37	13	32371395	32371395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:32371395C>T	ENST00000298386.2	+	17	1915	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	RXFP2_ENST00000380314.1_Missense_Mutation_p.S591F	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	615						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATGTTCTGTTCCATTCAAAAA	0.398000													30	53					0	0	0.003271	0	0
BZRAP1	9256	broad.mit.edu	37	17	56393446	56393446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:56393446G>A	ENST00000355701.3	-	16	2906	c.2036C>T	c.(2035-2037)cCg>cTg	p.P679L	BZRAP1_ENST00000343736.4_Missense_Mutation_p.P679L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P619L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	679	SH3 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCTGTCAGCGGAAGCTCTGC	0.522000													55	85					0	0	0.003610	0	0
PRDM16	63976	broad.mit.edu	37	1	3347512	3347512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:3347512G>A	ENST00000378398.3	+	16	3443	c.3361G>A	c.(3361-3363)Gag>Aag	p.E1121K	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.E1120K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E1121K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E1121K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E1121K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E1122K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E1120K			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1121	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		cgtggaggaggaggacgacga	0.642000			T	EVI1	"""MDS, AML"""								10	15					0	0	0.006214	0	0
OTOGL	283310	broad.mit.edu	37	12	80730237	80730237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:80730237G>A	ENST00000458043.2	+	39	4624	c.4618G>A	c.(4618-4620)Gga>Aga	p.G1540R	OTOGL_ENST00000547103.1_Missense_Mutation_p.G1528R	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TACATTTGATGGAAACAACGC	0.338000													12	22					0	0	0.001855	0	0
CCDC62	84660	broad.mit.edu	37	12	123286060	123286060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:123286060C>T	ENST00000253079.6	+	9	1711	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	CCDC62_ENST00000537566.1_Missense_Mutation_p.S217F|CCDC62_ENST00000392440.2_Missense_Mutation_p.S217F|CCDC62_ENST00000392441.4_Missense_Mutation_p.S456F	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	456						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CCCACTTTATCTGATGAGAAG	0.428000													23	23					0	0	0.004656	0	0
CACNA1I	8911	broad.mit.edu	37	22	40045903	40045903	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:40045903C>T	ENST00000336649.4	+	12	1983	c.1983C>T	c.(1981-1983)gtC>gtT	p.V661V	CACNA1I_ENST00000407673.1_Silent_p.V620V|CACNA1I_ENST00000404898.1_Silent_p.V620V|CACNA1I_ENST00000400164.3_Silent_p.V620V|CACNA1I_ENST00000401624.1_Silent_p.V655V|CACNA1I_ENST00000402142.3_Silent_p.V655V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	655					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCAACACCGTCAGCATGGGCA	0.687000													21	43					0	0	0.006320	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482150	37482150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:37482150G>A	ENST00000374660.1	+	33	2866	c.2767G>A	c.(2767-2769)Gcc>Acc	p.A923T	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A804T|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A804T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	974						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCCAACTAAAGCCTTAGAATT	0.274000													29	7					0	0	0.002836	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509388	171509388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:171509388C>T	ENST00000367742.3	+	16	3025	c.2783C>T	c.(2782-2784)tCc>tTc	p.S928F	PRRC2C_ENST00000392078.3_Missense_Mutation_p.S928F|PRRC2C_ENST00000426496.2_Missense_Mutation_p.S926F|PRRC2C_ENST00000338920.4_Missense_Mutation_p.S926F			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	926							protein C-terminus binding										AGAAGTGTTTCCCATGGATCT	0.453000													5	44					0	0	0.001168	0	0
CSMD1	64478	broad.mit.edu	37	8	3265606	3265606	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:3265606A>C	ENST00000520002.1	-	15	2444	c.1889T>G	c.(1888-1890)tTt>tGt	p.F630C	CSMD1_ENST00000537824.1_Missense_Mutation_p.F629C|CSMD1_ENST00000539096.1_Missense_Mutation_p.F629C|CSMD1_ENST00000400186.3_Missense_Mutation_p.F630C|CSMD1_ENST00000542608.1_Missense_Mutation_p.F629C|CSMD1_ENST00000602557.1_Missense_Mutation_p.F630C|CSMD1_ENST00000602723.1_Missense_Mutation_p.F630C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	630	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCAACATCAAAATCATTAAA	0.433000													10	26					0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9076829	9076829	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:9076829G>A	ENST00000397910.4	-	3	10820	c.10617C>T	c.(10615-10617)tcC>tcT	p.S3539S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3540	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						TGATGGTGGTGGAGATACCTG	0.542000													47	118					0	0	0.003610	0	0
OTOGL	283310	broad.mit.edu	37	12	80665537	80665537	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:80665537C>T	ENST00000458043.2	+	23	2607	c.2601C>T	c.(2599-2601)aaC>aaT	p.N867N	OTOGL_ENST00000547103.1_Silent_p.N867N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAGCCATGAACTTCACCTGCA	0.473000													34	40					0	0	0.004289	0	0
OR2L13	284521	broad.mit.edu	37	1	248263295	248263295	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:248263295C>T	ENST00000366478.2	+	3	955	c.618C>T	c.(616-618)ctC>ctT	p.L206L	OR2L13_ENST00000358120.2_Silent_p.L206L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCCTCTTTCTCCTTTTCCCTT	0.443000													48	104					0	0	0.003610	0	0
KSR2	283455	broad.mit.edu	37	12	117962911	117962911	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:117962911G>A	ENST00000425217.1	-	14	1932	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Silent_p.F655F|KSR2_ENST00000302438.5_Silent_p.F352F	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	655					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCCTGAAGGAAGATGCTGG	0.607000													30	40					0	0	0.003271	0	0
MYLK3	91807	broad.mit.edu	37	16	46744653	46744653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:46744653C>T	ENST00000394809.4	-	11	2278	c.2163G>A	c.(2161-2163)atG>atA	p.M721I	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Missense_Mutation_p.M380I	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	721	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAATGAAATTCATGGTCTCTG	0.478000													91	120					0	0	0.003610	0	0
KCNB1	3745	broad.mit.edu	37	20	47990024	47990024	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:47990024G>A	ENST00000371741.4	-	2	2239	c.2073C>T	c.(2071-2073)taC>taT	p.Y691Y		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	691					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGGGTCATGGTACATCCCTA	0.562000													22	36					0	0	0.002780	0	0
NCOA6	23054	broad.mit.edu	37	20	33334674	33334674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:33334674C>T	ENST00000374796.2	-	11	5421	c.2851G>A	c.(2851-2853)Gaa>Aaa	p.E951K	NCOA6_ENST00000359003.2_Missense_Mutation_p.E951K			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	951	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATTCCTTGTTCTCCAGGCAAC	0.388000													31	43					0	0	0.004289	0	0
AIP	9049	broad.mit.edu	37	11	67258443	67258443	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:67258443C>T	ENST00000279146.3	+	6	1090	c.972C>T	c.(970-972)ttC>ttT	p.F324F		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	324					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						AAGCCCGGTTCCGGGGGATCT	0.662000									Familial Isolated Pituitary Adenoma				12	11					0	0	0.001855	0	0
PALLD	23022	broad.mit.edu	37	4	169589400	169589400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:169589400G>A	ENST00000261509.6	+	3	1179	c.968G>A	c.(967-969)gGa>gAa	p.G323E	PALLD_ENST00000505667.1_Missense_Mutation_p.G323E|PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.G200E|PALLD_ENST00000335742.7_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	323	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CACTGTGAGGGAGGGGACCTC	0.507000									Pancreatic Cancer, Familial Clustering of				36	39					0	0	0.004878	0	0
KRT79	338785	broad.mit.edu	37	12	53227863	53227863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:53227863C>T	ENST00000330553.5	-	1	216	c.182G>A	c.(181-183)aGc>aAc	p.S61N		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	61	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTATAGAGGCTTCGGCTGCC	0.662000													39	41					0	0	0.006230	0	0
ADAM18	8749	broad.mit.edu	37	8	39495126	39495126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:39495126C>T	ENST00000265707.5	+	9	776	c.731C>T	c.(730-732)tCc>tTc	p.S244F	ADAM18_ENST00000379866.1_Missense_Mutation_p.S220F|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	244	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AACCAGATTTCCACCAGTGGG	0.363000													8	27					0	0	0.006214	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211365	107211365	+	RNA	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:107211365G>A	ENST00000390636.2	-	0	106																											TAGCAACAAGGAAAACCCAGC	0.507000													22	57					0	0	0.002299	0	0
LMAN2	10960	broad.mit.edu	37	5	176764160	176764160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:176764160G>A	ENST00000303127.7	-	6	971	c.767C>T	c.(766-768)tCc>tTc	p.S256F	LMAN2_ENST00000515209.1_Missense_Mutation_p.S256F	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	256	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			GGTGCCGGCGGAGGCCCCGAA	0.642000													15	19					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179437594	179437594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:179437594C>T	ENST00000589042.1	-	326	73489	c.73265G>A	c.(73264-73266)aGa>aAa	p.R24422K	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R22781K|TTN_ENST00000460472.2_Missense_Mutation_p.R15357K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15549K|TTN_ENST00000359218.5_Missense_Mutation_p.R15482K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21854K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22781	Fibronectin type-III 77.						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)			AGGCAGCATTCTGTCTTCAGC	0.483000													23	23					0	0	0.002780	0	0
INHBE	83729	broad.mit.edu	37	12	57850536	57850536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:57850536C>T	ENST00000266646.2	+	2	1174	c.958C>T	c.(958-960)Cga>Tga	p.R320*	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	320					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCCTACTGCCCGAAGGCCCCT	0.562000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	62					0	0	0.002096	0	0
OR4C15	81309	broad.mit.edu	37	11	55322535	55322535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:55322535G>A	ENST00000314644.2	+	1	753	c.753G>A	c.(751-753)atG>atA	p.M251I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGGCCTCATGGTGGTCATCA	0.458000										HNSCC(20;0.049)			27	35					0	0	0.003954	0	0
SRBD1	55133	broad.mit.edu	37	2	45774702	45774702	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:45774702G>A	ENST00000263736.4	-	13	1787	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	SRBD1_ENST00000535761.1_Silent_p.F94F	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	575					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CCGCCTCTCGGAAGCCTTGTC	0.328000													10	19					0	0	0.000978	0	0
OR51B6	390058	broad.mit.edu	37	11	5373574	5373574	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:5373574C>T	ENST00000380219.1	+	1	837	c.837C>T	c.(835-837)ttC>ttT	p.F279F	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCCACTTCCTTTTCCCAC	0.393000													60	66					0	0	0.003610	0	0
TSHR	7253	broad.mit.edu	37	14	81610130	81610130	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:81610130C>T	ENST00000541158.2	+	11	2050	c.1728C>T	c.(1726-1728)acC>acT	p.T576T	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.T576T			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	576					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ACACCGAGACCCCTCTTGCTC	0.498000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						35	118					0	0	0.004289	0	0
C9orf64	84267	broad.mit.edu	37	9	86554458	86554458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:86554458G>A	ENST00000376344.3	-	4	1210	c.994C>T	c.(994-996)Ccg>Tcg	p.P332S	C9orf64_ENST00000314700.1_Missense_Mutation_p.P191S	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	332										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CGATGAAACGGAATTCCTTTC	0.373000													20	6					0	0	0.007413	0	0
CHRNA4	1137	broad.mit.edu	37	20	61990991	61990991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:61990991G>A	ENST00000370263.4	-	2	358	c.137C>T	c.(136-138)tCc>tTc	p.S46F	CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	46					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GTTGTAACCGGAGAAGAGTTT	0.652000													23	33					0	0	0.008361	0	0
GPR113	165082	broad.mit.edu	37	2	26539791	26539791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:26539791C>T	ENST00000333478.6	-	3	896	c.314G>A	c.(313-315)aGa>aAa	p.R105K	GPR113_ENST00000541401.1_Intron|GPR113_ENST00000421160.2_Missense_Mutation_p.R95K|GPR113_ENST00000311519.1_Missense_Mutation_p.R164K|GPR113_ENST00000459892.1_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	164					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTGTGAGTCTGAGGCCAGT	0.592000													20	18					0	0	0.001523	0	0
ARGFX	503582	broad.mit.edu	37	3	121289648	121289648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:121289648G>A	ENST00000334384.3	+	1	98	c.88G>A	c.(88-90)Gat>Aat	p.D30N		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	30						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)		ACCACCACAGGATCCAGCTAG	0.443000													26	34					0	0	0.005443	0	0
MYH15	22989	broad.mit.edu	37	3	108129561	108129561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:108129561G>A	ENST00000273353.3	-	32	4480	c.4424C>T	c.(4423-4425)tCc>tTc	p.S1475F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1475						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAACGCCTGGGACTCCTCGTG	0.597000													11	41					0	0	0.001368	0	0
SVEP1	79987	broad.mit.edu	37	9	113173882	113173882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:113173882G>A	ENST00000401783.2	-	37	6445	c.6109C>T	c.(6109-6111)Cgg>Tgg	p.R2037W	SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.R2014W	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2037	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCAAAGAGCCGATGGGCAGTC	0.572000													16	4					0	0	0.004990	0	0
ZEB2	9839	broad.mit.edu	37	2	145157783	145157783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:145157783G>A	ENST00000558170.2	-	8	2155	c.971C>T	c.(970-972)tCc>tTc	p.S324F	ZEB2_ENST00000303660.4_Missense_Mutation_p.S324F|ZEB2_ENST00000539609.3_Missense_Mutation_p.S300F|ZEB2_ENST00000409487.3_Missense_Mutation_p.S324F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	324						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CGAACTGTAGGAACCAGAATG	0.373000													9	22					0	0	0.008291	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921795	78921795	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:78921795G>A	ENST00000261751.3	-	5	963	c.852C>T	c.(850-852)atC>atT	p.I284I	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	284					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TGGGTGGCACGATCTTGGAGA	0.562000													33	36					0	0	0.002836	0	0
VPS39	23339	broad.mit.edu	37	15	42476896	42476896	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:42476896C>T	ENST00000318006.5	-	8	699	c.537G>A	c.(535-537)gtG>gtA	p.V179V	VPS39_ENST00000348544.4_Silent_p.V190V	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	190	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CCTTTCCATCCACCTATAGGA	0.493000													23	65					0	0	0.003330	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670181	8670181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:8670181C>T	ENST00000270328.4	-	3	417	c.151G>A	c.(151-153)Ggg>Agg	p.G51R	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G51R			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	51					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCAGTGCCCCGTTGTGGTCC	0.682000													7	9					0	0	0.003080	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22830952	22830952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:22830952C>T	ENST00000376573.4	-	8	1045	c.817G>A	c.(817-819)Gac>Aac	p.D273N	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.D214N|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.D133N	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	273	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AGACTGTAGTCCATGAGCTTC	0.542000													41	6					0	0	0.003610	0	0
PINX1	54984	broad.mit.edu	37	8	10622952	10622952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:10622952C>T	ENST00000314787.3	-	7	1065	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	PINX1_ENST00000519088.1_3'UTR|SOX7_ENST00000553390.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000426190.2_3'UTR|SOX7_ENST00000554914.1_Intron	NM_017884.4	NP_060354.4			PIN2/TERF1 interacting, telomerase inhibitor 1											kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		ACTAGCGTTTCTTCTAGTGTA	0.532000													7	25					0	0	0.001984	0	0
C4BPA	722	broad.mit.edu	37	1	207307809	207307809	+	Missense_Mutation	SNP	G	G	A	rs141825051		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:207307809G>A	ENST00000367070.3	+	9	1339	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	382	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AGGAAAAGTCGTCCTGCCAAT	0.398000													19	66					0	0	0.002780	0	0
A2M	2	broad.mit.edu	37	12	9248254	9248254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:9248254C>T	ENST00000318602.7	-	16	2201	c.1894G>A	c.(1894-1896)Ggg>Agg	p.G632R		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	632					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTCAAAGGCCCAGGGAAGCCA	0.358000													54	59					0	0	0.003610	0	0
PCDH18	54510	broad.mit.edu	37	4	138451383	138451383	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:138451383T>C	ENST00000344876.4	-	1	2246	c.1860A>G	c.(1858-1860)atA>atG	p.I620M	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.I620M|PCDH18_ENST00000507846.1_Missense_Mutation_p.I400M	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	620	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TACCTGCTACTATGGCGCAGC	0.448000													101	143					0	0	0.003610	0	0
FCRL1	115350	broad.mit.edu	37	1	157771858	157771858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:157771858C>T	ENST00000358292.3	-	5	784	c.733G>A	c.(733-735)Gag>Aag	p.E245K	FCRL1_ENST00000368176.3_Missense_Mutation_p.E245K|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.E245K	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	245	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTGATATCCTCGTGATAAAAC	0.592000													35	46					0	0	0.004878	0	0
ANKRD22	118932	broad.mit.edu	37	10	90582717	90582717	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:90582717A>G	ENST00000371930.4	-	6	767	c.557T>C	c.(556-558)aTg>aCg	p.M186T	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	186										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TTTCCTTAGCATTAATTCAAT	0.403000													64	20					0	0	0.003610	0	0
ZNF770	54989	broad.mit.edu	37	15	35274609	35274609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:35274609G>A	ENST00000356321.4	-	3	1371	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GCACGCTTAAGCTTGGCCAAG	0.333000													4	8					0	0	0.000602	0	0
ATG5	9474	broad.mit.edu	37	6	106740973	106740973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:106740973G>A	ENST00000369076.3	-	4	568	c.245C>T	c.(244-246)cCa>cTa	p.P82L	ATG5_ENST00000369070.1_Missense_Mutation_p.P4L|ATG5_ENST00000360666.4_Intron|ATG5_ENST00000343245.3_Missense_Mutation_p.P82L	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	82					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CAAACCAATTGGATAATGCCT	0.303000													42	12					0	0	0.003610	0	0
RNPC3	55599	broad.mit.edu	37	1	104093653	104093653	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:104093653G>A	ENST00000533099.1	+	14	1688	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	RNPC3_ENST00000423855.2_Silent_p.K484K|RNPC3_ENST00000524631.1_Silent_p.K483K			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	484	RRM 2.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		AAGCCTTAAAGGAAGCTAATG	0.338000													8	28					0	0	0.003080	0	0
SNCAIP	9627	broad.mit.edu	37	5	121767736	121767736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:121767736G>A	ENST00000261367.7	+	8	2824	c.1396G>A	c.(1396-1398)Gat>Aat	p.D466N	SNCAIP_ENST00000379538.3_Missense_Mutation_p.D53N|SNCAIP_ENST00000379533.2_Missense_Mutation_p.D466N|SNCAIP_ENST00000379536.2_Missense_Mutation_p.D359N|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.D419N|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.D466N			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	419					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TTGTTCTAAGGATTTTCCAAG	0.408000													24	24					0	0	0.006320	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22347999	22347999	+	Silent	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:22347999T>C	ENST00000344041.6	-	5	492	c.180A>G	c.(178-180)caA>caG	p.Q60Q	RAPGEF5_ENST00000405243.1_Silent_p.Q213Q	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GAGGCACAAGTTGCAGTAAAA	0.398000													4	11					0	0	0.001168	0	0
CENPE	1062	broad.mit.edu	37	4	104096030	104096030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:104096030G>A	ENST00000265148.3	-	16	1599	c.1510C>T	c.(1510-1512)Cgt>Tgt	p.R504C	CENPE_ENST00000380026.3_Missense_Mutation_p.R504C	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	504					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TAGTCAGCACGAAGTGAGTTC	0.269000													4	4					0	0	0.000248	0	0
NLRP3	114548	broad.mit.edu	37	1	247587626	247587626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:247587626C>T	ENST00000366497.2	+	4	1661	c.881C>T	c.(880-882)cCc>cTc	p.P294L	NLRP3_ENST00000348069.2_Missense_Mutation_p.P294L|NLRP3_ENST00000391828.3_Missense_Mutation_p.P294L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.P294L|NLRP3_ENST00000391827.2_Missense_Mutation_p.P294L|NLRP3_ENST00000336119.3_Missense_Mutation_p.P294L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	294	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAGAAAACCCTCCAGAATC	0.587000													45	75					0	0	0.002522	0	0
DNAH1	25981	broad.mit.edu	37	3	52433084	52433084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:52433084G>A	ENST00000420323.2	+	76	12569	c.12308G>A	c.(12307-12309)tGg>tAg	p.W4103*		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4168					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGCAGGCCTGGATCCAAGAT	0.542000													114	87					0	0	0.003610	0	0
GYPE	2996	broad.mit.edu	37	4	144801625	144801625	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:144801625C>T	ENST00000358615.4	-	2	126	c.75G>A	c.(73-75)gtG>gtA	p.V25V	GYPE_ENST00000437468.2_Silent_p.V25V	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	25						integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					TGTGCATTGCCACACCAGTGG	0.383000													16	118					0	0	0.006122	0	0
POM121L12	285877	broad.mit.edu	37	7	53103598	53103598	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:53103598C>T	ENST00000408890.4	+	1	250	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	78										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCACCTCATCGAGGTGCGGC	0.716000													20	45					0	0	0.001882	0	0
TRPC5	7224	broad.mit.edu	37	X	111020103	111020103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:111020103C>T	ENST00000262839.2	-	11	3278	c.2360G>A	c.(2359-2361)aGt>aAt	p.S787N		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	787					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCCCCACCACTGCCATCATT	0.478000													146	18					0	0	0.003610	0	0
TNNC2	7125	broad.mit.edu	37	20	44453199	44453199	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:44453199C>G	ENST00000372557.1	-	4	296	c.89G>C	c.(88-90)aGg>aCg	p.R30T	TNNC2_ENST00000372555.3_Missense_Mutation_p.R45T			P02585	TNNC2_HUMAN	troponin C type 2 (fast)	45	EF-hand 1.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				GCCCAGCATCCTCATCACCGT	0.617000													29	41					0	0	0.001786	0	0
USP2	9099	broad.mit.edu	37	11	119228237	119228237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:119228237G>A	ENST00000260187.2	-	11	1859	c.1565C>T	c.(1564-1566)cCc>cTc	p.P522L	USP2_ENST00000525735.1_Missense_Mutation_p.P313L|USP2_ENST00000455332.2_Missense_Mutation_p.P279L	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	522					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GTCTCTTAGGGGGaagttcac	0.488000													49	12					0	0	0.003610	0	0
C10orf113	387638	broad.mit.edu	37	10	21414812	21414812	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:21414812G>A	ENST00000534331.1	-	2	458	c.408C>T	c.(406-408)ttC>ttT	p.F136F	C10orf113_ENST00000529198.1_3'UTR|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Silent_p.F126F	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	136										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTATGCCCTGGAATTTAAATC	0.433000													20	43					0	0	0.001882	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507009	130507009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:130507009G>A	ENST00000314830.8	-	7	1747	c.1634C>T	c.(1633-1635)cCc>cTc	p.P545L	SH2D3C_ENST00000429553.1_Missense_Mutation_p.P191L|SH2D3C_ENST00000373277.4_Missense_Mutation_p.P388L|SH2D3C_ENST00000373276.3_Missense_Mutation_p.P477L|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000420366.1_Missense_Mutation_p.P387L|SH2D3C_ENST00000373274.3_Missense_Mutation_p.P385L	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	545					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCCACGATGGGGACTGTGAA	0.597000													72	18					0	0	0.003610	0	0
LIMK2	3985	broad.mit.edu	37	22	31663806	31663806	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:31663806C>T	ENST00000331728.4	+	10	1287	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	LIMK2_ENST00000340552.4_Silent_p.F370F|LIMK2_ENST00000333611.4_Silent_p.F370F|LIMK2_ENST00000406516.1_Silent_p.F313F|LIMK2_ENST00000444929.2_Silent_p.F145F	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	391	Protein kinase.					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						TGCTCAAGTTCATTGGTGTGC	0.527000													39	47					0	0	0.006230	0	0
CD226	10666	broad.mit.edu	37	18	67562948	67562948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:67562948G>A	ENST00000280200.4	-	4	984	c.716C>T	c.(715-717)aCt>aTt	p.T239I	CD226_ENST00000577287.1_Missense_Mutation_p.T84I|CD226_ENST00000581982.1_Missense_Mutation_p.T84I|CD226_ENST00000582621.1_Missense_Mutation_p.T239I	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	239	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CTCGGCTACAGTCAATCTCAT	0.507000													60	97					0	0	0.003610	0	0
OR4A47	403253	broad.mit.edu	37	11	48510571	48510571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:48510571C>T	ENST00000446524.1	+	1	303	c.227C>T	c.(226-228)tCc>tTc	p.S76F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCATCCATTTCCCCCAGATTG	0.423000													53	60					0	0	0.003610	0	0
RGPD4	285190	broad.mit.edu	37	2	108487252	108487252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:108487252G>A	ENST00000408999.3	+	20	2869	c.2792G>A	c.(2791-2793)gGa>gAa	p.G931E	RGPD4_ENST00000354986.4_Missense_Mutation_p.G931E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	931					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCGGAACCAGGAAATCAAGAA	0.408000													82	164					0	0	0.003610	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94337681	94337681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:94337681G>A	ENST00000436063.2	-	5	2071	c.2014C>T	c.(2014-2016)Ccg>Tcg	p.P672S		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		AATCTTTTCGGGTCCATGCTG	0.398000													52	194					0	0	0.003610	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111953096	111953096	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:111953096T>C	ENST00000218789.5	+	19	2339	c.1840_splice	c.e19-1	p.R614_splice	ARHGEF7_ENST00000426073.2_Splice_Site_p.S555_splice|ARHGEF7_ENST00000370623.3_Splice_Site_p.S640_splice|ARHGEF7_ENST00000375736.4_Splice_Site_p.S555_splice|ARHGEF7_ENST00000375737.5_Splice_Site_p.S630_splice			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	792					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGATCCTAGGTTCACGCAAAG	0.338000													51	85					0	0	0.003610	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102516134	102516134	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:102516134C>T	ENST00000360184.4	+	76	13763	c.13599C>T	c.(13597-13599)agC>agT	p.S4533S	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4533					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGCCAACAGCTGGTCCCTGG	0.617000													29	6					0	0	0.005443	0	0
DPYSL4	10570	broad.mit.edu	37	10	134008372	134008372	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:134008372G>T	ENST00000338492.4	+	4	501	c.337G>T	c.(337-339)Ggt>Tgt	p.G113C	DPYSL4_ENST00000368627.1_Missense_Mutation_p.G36C|DPYSL4_ENST00000368629.1_Missense_Mutation_p.G36C|DPYSL4_ENST00000493882.1_3'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	113					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.G113S(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CCCCGACACGGGTGTGAGCCT	0.657000													47	10					3.68337e-26	4.37938e-26	0.003610	1	0
TCEB3C	162699	broad.mit.edu	37	18	44554605	44554605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:44554605G>A	ENST00000330682.2	-	1	1844	c.1609C>T	c.(1609-1611)Cga>Tga	p.R537*	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTGTAGTCTCGAATTGCCTTG	0.602000													11	533					0	0	0.008871	0	0
LACTB	114294	broad.mit.edu	37	15	63414106	63414106	+	Silent	SNP	T	T	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:63414106T>A	ENST00000413507.2	+	1	75	c.36T>A	c.(34-36)gcT>gcA	p.A12A	LACTB_ENST00000261893.4_Silent_p.A12A	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN	lactamase, beta	12						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						CTGCCCGGGCTGCCGCCCCCG	0.761000													5	4					0	0	0.001984	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162691	33162691	+	RNA	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:33162691G>A	ENST00000510327.1	-	0	346																											AGGAAGAAGAGATTTTAAACA	0.473000													4	6					0	0	0.000248	0	0
GRM8	2918	broad.mit.edu	37	7	126409978	126409978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:126409978C>T	ENST00000339582.2	-	7	2106	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.R433Q|GRM8_ENST00000405249.1_Missense_Mutation_p.R433Q|GRM8_ENST00000358373.3_Missense_Mutation_p.R433Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	433					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGTACTCATTCGTGGACAAAG	0.403000										HNSCC(24;0.065)			41	25					0	0	0.002522	0	0
KIF5A	3798	broad.mit.edu	37	12	57962771	57962771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:57962771C>T	ENST00000455537.2	+	9	1014	c.740C>T	c.(739-741)gCc>gTc	p.A247V	KIF5A_ENST00000286452.5_Missense_Mutation_p.A158V	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	247	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCAGAGGGAGCCGTGCTGGAC	0.567000													7	29					0	0	0.004482	0	0
KCMF1	56888	broad.mit.edu	37	2	85270737	85270737	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:85270737G>A	ENST00000409785.3	+	4	734	c.375G>A	c.(373-375)acG>acA	p.T125T		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	125						intracellular	ligase activity|zinc ion binding			ovary(3)	3						ATCATGTCACGGATGACTTTG	0.383000													15	19					0	0	0.003163	0	0
LY9	4063	broad.mit.edu	37	1	160783515	160783515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:160783515G>A	ENST00000263285.5	+	3	574	c.544G>A	c.(544-546)Ggg>Agg	p.G182R	LY9_ENST00000368041.2_Missense_Mutation_p.G142R|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.G182R	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	182	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTCCGTGAAGGGGGCAGAGAA	0.532000													31	87					0	0	0.002445	0	0
MYO18B	84700	broad.mit.edu	37	22	26219584	26219584	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:26219584C>T	ENST00000335473.7	+	13	2884	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	MYO18B_ENST00000407587.2_Silent_p.I878I|MYO18B_ENST00000536101.1_Silent_p.I878I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	878	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTCGACAGATCATCCAGCAAA	0.587000													92	138					0	0	0.003610	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965630	35965630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:35965630C>T	ENST00000274278.3	-	4	1058	c.701G>A	c.(700-702)aGg>aAg	p.R234K	UGT3A1_ENST00000507113.1_Missense_Mutation_p.R200K|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R234K|UGT3A1_ENST00000333811.4_Missense_Mutation_p.R180K|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	234						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAACTGGCCTAGAGCCTTC	0.438000													34	29					0	0	0.005524	0	0
SYBU	55638	broad.mit.edu	37	8	110655095	110655095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:110655095G>A	ENST00000399066.3	-	1	809	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	SYBU_ENST00000446070.2_Missense_Mutation_p.R30W|SYBU_ENST00000433638.1_Missense_Mutation_p.R31W|SYBU_ENST00000419099.1_Missense_Mutation_p.R30W|SYBU_ENST00000422135.1_Missense_Mutation_p.R31W|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000533895.1_Missense_Mutation_p.R30W|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000424158.2_Missense_Mutation_p.R36W|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000533171.1_Missense_Mutation_p.R31W|SYBU_ENST00000408908.2_Missense_Mutation_p.R31W|SYBU_ENST00000440310.1_Missense_Mutation_p.R31W|SYBU_ENST00000276646.9_Missense_Mutation_p.R31W|SYBU_ENST00000528647.1_Missense_Mutation_p.R30W|SYBU_ENST00000528331.1_Intron	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	31	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ATATGGGGCCGAAGAATCAAC	0.502000													32	80					0	0	0.002445	0	0
FLG2	388698	broad.mit.edu	37	1	152324245	152324245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:152324245C>T	ENST00000388718.5	-	3	6089	c.6017G>A	c.(6016-6018)aGa>aAa	p.R2006K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2006							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCATGTCTAGTGGTATC	0.527000													149	255					0	0	0.003610	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962071	73962071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:73962071G>A	ENST00000373468.1	-	3	2972	c.2321C>T	c.(2320-2322)tCt>tTt	p.S774F	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S774F			Q5QGS0	K2022_HUMAN	KIAA2022	774					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATGAAATTCAGATAGACGGGA	0.388000													34	53					0	0	0.002096	0	0
DDX46	9879	broad.mit.edu	37	5	134117686	134117686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:134117686G>A	ENST00000452510.2	+	8	1113	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	DDX46_ENST00000354283.4_Missense_Mutation_p.E319K	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	319					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAGCTTCTAGAACCAGTTGA	0.343000													10	30					0	0	0.008291	0	0
COL6A3	1293	broad.mit.edu	37	2	238267874	238267874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:238267874C>T	ENST00000295550.4	-	19	6781	c.6329G>A	c.(6328-6330)gGa>gAa	p.G2110E	COL6A3_ENST00000347401.3_Missense_Mutation_p.G1909E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1910E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1503E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1904E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1904E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2110	Collagen-like 2.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.G2110A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCATCCAGTCCAATTTCTCC	0.408000													39	29					0	0	0.005524	0	0
AIM1L	55057	broad.mit.edu	37	1	26669299	26669299	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:26669299G>A	ENST00000527815.1	-	4	577	c.528C>T	c.(526-528)acC>acT	p.T176T	AIM1L_ENST00000308182.5_Silent_p.T5T	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	5	Beta/gamma crystallin 'Greek key' 4.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-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;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TTGTCCCTGGGGTTCTGAGTT	0.587000													69	104					0	0	0.003610	0	0
TJP3	27134	broad.mit.edu	37	19	3743959	3743959	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:3743959G>A	ENST00000541714.2	+	15	2328	c.1866G>A	c.(1864-1866)gtG>gtA	p.V622V	TJP3_ENST00000539908.2_Silent_p.V586V|TJP3_ENST00000589378.1_Silent_p.V631V|TJP3_ENST00000587686.1_Silent_p.V641V|TJP3_ENST00000262968.9_Silent_p.V655V|TJP3_ENST00000382008.3_Silent_p.V636V	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	636	Guanylate kinase-like.					tight junction	protein binding	p.V655V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGGTAGTGATCCTGGGAC	0.522000													47	51					0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934623	9934623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:9934623G>A	ENST00000396573.2	-	8	1841	c.1532C>T	c.(1531-1533)tCg>tTg	p.S511L	GRIN2A_ENST00000562109.1_Missense_Mutation_p.S511L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S354L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S511L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S511L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S511L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	511	Glutamate binding (By similarity).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATGGTGAGCGAGCCAACTGC	0.448000													14	63					0	0	0.003163	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37581424	37581424	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:37581424G>A	ENST00000337843.2	-	2	198	c.123C>T	c.(121-123)atC>atT	p.I41I	C1QTNF6_ENST00000397110.2_Silent_p.I41I|C1QTNF6_ENST00000470655.1_5'UTR	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	22						collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						CCACCATAGGGATCTCACACA	0.607000													31	41					0	0	0.001786	0	0
CCDC141	285025	broad.mit.edu	37	2	179720119	179720119	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:179720119C>T	ENST00000420890.2	-	19	3132	c.3015G>A	c.(3013-3015)aaG>aaA	p.K1005K	CCDC141_ENST00000295723.5_Silent_p.K430K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	430							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCAAATTCTTCTTGTAATCTG	0.343000													23	32					0	0	0.003954	0	0
C6orf222	389384	broad.mit.edu	37	6	36287322	36287322	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:36287322C>T	ENST00000437635.2	-	11	1911	c.1734G>A	c.(1732-1734)ctG>ctA	p.L578L		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	578										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGGTGGCTACCAGCTTGCTGA	0.517000													39	53					0	0	0.008740	0	0
OR6K6	128371	broad.mit.edu	37	1	158725527	158725527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:158725527C>T	ENST00000368144.2	+	1	1018	c.922C>T	c.(922-924)Ctt>Ttt	p.L308F		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTTTGTTATCCTTGCTCCCTT	0.443000													67	57					0	0	0.003610	0	0
MED12	9968	broad.mit.edu	37	X	70341598	70341598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:70341598C>T	ENST00000333646.6	+	7	1232	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	MED12_ENST00000374080.3_Missense_Mutation_p.P345S|MED12_ENST00000374102.1_Missense_Mutation_p.P345S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	345					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACCCTCGACTCCCTTTAGTGA	0.557000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						36	10					0	0	0.005524	0	0
SSX7	280658	broad.mit.edu	37	X	52681972	52681972	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:52681972C>T	ENST00000298181.5	-	3	290	c.132G>A	c.(130-132)gaG>gaA	p.E44E		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	44	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					AGCTGATTTTCTCCAAGGATT	0.378000													32	8					0	0	0.002836	0	0
FAM47C	442444	broad.mit.edu	37	X	37027408	37027408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:37027408G>A	ENST00000358047.3	+	1	977	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	309										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCTGCCTGGAGCCTCCCAA	0.592000													25	25					0	0	0.004656	0	0
WNK4	65266	broad.mit.edu	37	17	40933287	40933287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:40933287G>A	ENST00000246914.5	+	1	592	c.571G>A	c.(571-573)Ggg>Agg	p.G191R		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	191	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGTGTATCGAGGGCTAGACAC	0.617000													11	42					0	0	0.000978	0	0
TRGV8	6982	broad.mit.edu	37	7	38370226	38370226	+	RNA	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:38370226C>T	ENST00000390343.2	-	0	185																											ACTTTGTTCTCCCTTCCAAGT	0.438000													33	43					0	0	0.004878	0	0
EPHA6	285220	broad.mit.edu	37	3	97356763	97356763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:97356763G>A	ENST00000389672.5	+	14	2659	c.2621G>A	c.(2620-2622)cGa>cAa	p.R874Q	EPHA6_ENST00000442602.2_3'UTR|EPHA6_ENST00000514100.1_Missense_Mutation_p.R266Q|EPHA6_ENST00000502694.1_Missense_Mutation_p.R266Q	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	779	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						GGAATGCTCCGAGGCATTGCA	0.423000													52	119					0	0	0.003610	0	0
HRNR	388697	broad.mit.edu	37	1	152188193	152188193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:152188193G>A	ENST00000368801.2	-	3	5987	c.5912C>T	c.(5911-5913)tCa>tTa	p.S1971L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1971					keratinization		calcium ion binding|protein binding	p.S1971*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCACCCTGAGCCAGACCC	0.607000													56	1672					0	0	0.006320	0	0
CUX2	23316	broad.mit.edu	37	12	111779803	111779803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:111779803C>T	ENST00000261726.6	+	21	3759	c.3605C>T	c.(3604-3606)tCc>tTc	p.S1202F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1202						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGCTCCTCTCCTTCCAGCTC	0.607000													44	45					0	0	0.003214	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42143230	42143230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:42143230G>A	ENST00000444063.1	+	1	178	c.46G>A	c.(46-48)Gga>Aga	p.G16R	L3MBTL1_ENST00000427442.2_Intron|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.G16R|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.G16R|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000418998.1_Intron			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	16					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GATGGGTCAAGGACCCGTACG	0.647000													7	4					0	0	0.004482	0	0
UHRF1	29128	broad.mit.edu	37	19	4911012	4911012	+	RNA	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:4911012G>A	ENST00000592666.1	+	0	691							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GTTCCACGTGGAGCCAGGCCT	0.642000											OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	71					0	0	0.003954	0	0
AMER3	205147	broad.mit.edu	37	2	131520963	131520963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:131520963G>A	ENST00000423981.1	+	2	1428	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N	AMER3_ENST00000321420.4_Missense_Mutation_p.D440N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.D440N(1)									CAGCCCAGATGATGACCTGTG	0.662000													29	29					0	0	0.001786	0	0
POFUT1	23509	broad.mit.edu	37	20	30804475	30804475	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:30804475T>A	ENST00000375749.3	+	4	555	c.493T>A	c.(493-495)Ttt>Att	p.F165I	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Missense_Mutation_p.F165I|POFUT1_ENST00000486717.1_3'UTR	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	165					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTCGGAGCTTTTTACAGGCAT	0.512000													55	70					0	0	0.003610	0	0
UNC13C	440279	broad.mit.edu	37	15	54919182	54919182	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:54919182G>A	ENST00000545554.1	+	32	6516	c.6516G>A	c.(6514-6516)ctG>ctA	p.L2172L	UNC13C_ENST00000260323.11_Silent_p.L2172L|UNC13C_ENST00000537900.1_Silent_p.L2170L|UNC13C_ENST00000539562.2_Silent_p.L93L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2172					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCCTCTTCTGAAAAATATCT	0.393000													32	33					0	0	0.002836	0	0
WBP11P1	441818	broad.mit.edu	37	18	30091984	30091984	+	RNA	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:30091984G>A	ENST00000567636.1	+	0	359					NR_003558.1																						CCGAGACATGGAGAAATTGGA	0.403000													19	22					0	0	0.006122	0	0
CA1	759	broad.mit.edu	37	8	86253845	86253845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:86253845C>T	ENST00000523953.1	-	3	1066	c.20G>A	c.(19-21)gGa>gAa	p.G7E	CA1_ENST00000522389.1_5'UTR|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000542576.1_Missense_Mutation_p.G7E|CA1_ENST00000523022.1_Missense_Mutation_p.G7E|CA1_ENST00000431316.1_Missense_Mutation_p.G7E|CA1_ENST00000256119.5_Missense_Mutation_p.G7E|CA1_ENST00000432364.2_Missense_Mutation_p.G7E			P00915	CAH1_HUMAN	carbonic anhydrase I	7					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCATCATATCCCCAGTCTGG	0.323000													8	41					0	0	0.006214	0	0
OR6N1	128372	broad.mit.edu	37	1	158736272	158736272	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:158736272G>A	ENST00000335094.2	-	1	220	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCTCTGAGAAGGAGAGAATGC	0.498000													26	83					0	0	0.007291	0	0
KCNH2	3757	broad.mit.edu	37	7	150656680	150656680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:150656680G>A	ENST00000392968.2	-	1	1284	c.164C>T	c.(163-165)cCc>cTc	p.P55L	KCNH2_ENST00000430723.3_Missense_Mutation_p.P151L|KCNH2_ENST00000262186.5_Missense_Mutation_p.P151L			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	151	PAS.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CCAGCTGGTGGGGGGGCCCCG	0.592000													14	72					0	0	0.004007	0	0
DDX60	55601	broad.mit.edu	37	4	169158505	169158505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:169158505G>A	ENST00000393743.3	-	32	4634	c.4343C>T	c.(4342-4344)tCt>tTt	p.S1448F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1448							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AACAAGATTAGAAGGTTCATG	0.338000													9	24					0	0	0.000978	0	0
DRD5	1816	broad.mit.edu	37	4	9783797	9783797	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:9783797C>T	ENST00000304374.2	+	1	540	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	48					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCCTGCTGACCCTACTCATCA	0.677000													10	14					0	0	0.008291	0	0
DNAH11	8701	broad.mit.edu	37	7	21856294	21856294	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:21856294G>A	ENST00000328843.6	+	65	10594	c.10563G>A	c.(10561-10563)ctG>ctA	p.L3521L	DNAH11_ENST00000409508.3_Silent_p.L3514L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3521	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAATGGACCTGAAAGTCACAC	0.448000									Kartagener syndrome				28	21					0	0	0.001786	0	0
GNGT2	2793	broad.mit.edu	37	17	47284745	47284745	+	Missense_Mutation	SNP	C	C	T	rs144009787		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:47284745C>T	ENST00000511277.1	-	3	219	c.40G>A	c.(40-42)Gag>Aag	p.E14K	GNGT2_ENST00000503070.1_Missense_Mutation_p.E14K|GNGT2_ENST00000300406.2_Missense_Mutation_p.E14K|GNGT2_ENST00000507680.1_Missense_Mutation_p.E14K|GNGT2_ENST00000511673.1_Missense_Mutation_p.E14K|GNGT2_ENST00000515635.1_Missense_Mutation_p.E14K	NM_001198756.1	NP_001185685.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2	14					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TGCTCCACCTCCATCTTCAAC	0.542000													32	142					0	0	0.008361	0	0
TMEM130	222865	broad.mit.edu	37	7	98457947	98457947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:98457947C>T	ENST00000450876.1	-	3	1469	c.154G>A	c.(154-156)Gac>Aac	p.D52N	TMEM130_ENST00000345589.4_Missense_Mutation_p.D34N|TMEM130_ENST00000416379.2_Missense_Mutation_p.D136N|TMEM130_ENST00000339375.4_Missense_Mutation_p.D136N|TMEM130_ENST00000546258.1_Missense_Mutation_p.D117N			Q8N3G9	TM130_HUMAN	transmembrane protein 130	136						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAACAAGGTCCCCCACGAGG	0.552000													29	19					0	0	0.003271	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43662469	43662469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:43662469C>T	ENST00000374466.3	+	6	1512	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	393					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGTGTTTTACCCTGTGGTGTT	0.363000													8	18					0	0	0.004482	0	0
IGHV3-15	28448	broad.mit.edu	37	14	106610532	106610532	+	RNA	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:106610532G>A	ENST00000390603.2	-	0	217																											TACTGAAAGTGAATCCAGAGG	0.577000													28	7					0	0	0.002445	0	0
PLCL1	5334	broad.mit.edu	37	2	198950711	198950711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:198950711C>T	ENST00000428675.1	+	2	2868	c.2470C>T	c.(2470-2472)Cgg>Tgg	p.R824W	PLCL1_ENST00000437704.2_Missense_Mutation_p.R726W	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	824					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)	GCCTGGATATCGGCATGTTCC	0.453000													17	38					0	0	0.006122	0	0
LAMA5	3911	broad.mit.edu	37	20	60921188	60921188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:60921188C>T	ENST00000252999.3	-	10	1432	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	LAMA5_ENST00000370692.3_Missense_Mutation_p.E456K|LAMA5_ENST00000370677.3_Missense_Mutation_p.E456K	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	456	Laminin EGF-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACACCGCTCCCCAGAGAAG	0.647000													7	34					0	0	0.001984	0	0
RYR1	6261	broad.mit.edu	37	19	38996454	38996454	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:38996454G>A	ENST00000355481.4	+	54	8540	c.8409G>A	c.(8407-8409)gaG>gaA	p.E2803E	RYR1_ENST00000360985.3_Silent_p.E2803E|RYR1_ENST00000359596.3_Silent_p.E2803E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2803	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)	AGGACAAAGAGATTTACCGCT	0.567000													8	29					0	0	0.004482	0	0
NLRP4	147945	broad.mit.edu	37	19	56370173	56370173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:56370173C>T	ENST00000301295.6	+	3	1836	c.1414C>T	c.(1414-1416)Cat>Tat	p.H472Y	NLRP4_ENST00000587891.1_Missense_Mutation_p.H397Y|NLRP4_ENST00000346986.5_Missense_Mutation_p.H472Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	472	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCACCTTGATCATCCTCACCC	0.478000													37	75					0	0	0.004289	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776277	77776277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:77776277C>T	ENST00000521891.2	+	11	10775	c.10327C>T	c.(10327-10329)Cca>Tca	p.P3443S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3398S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3417S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3394S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3394						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCTTCGTGTCCCAGTCAGCAA	0.448000										HNSCC(33;0.089)			9	23					0	0	0.008291	0	0
KIAA1804	84451	broad.mit.edu	37	1	233511738	233511738	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:233511738G>A	ENST00000366624.3	+	7	2013	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	MLK4_ENST00000366622.1_Silent_p.R30R	NM_032435.2	NP_115811.2																					ATGTAAAAAGGAATTTTAAGA	0.348000													24	24					0	0	0.002780	0	0
MGAM	8972	broad.mit.edu	37	7	141755362	141755362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:141755362G>A	ENST00000475668.2	+	28	3373	c.3319G>A	c.(3319-3321)Gac>Aac	p.D1107N	MGAM_ENST00000549489.2_Missense_Mutation_p.D1107N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1107	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTCAGTTGGGACTCTCAGCT	0.453000													24	89					0	0	0.006320	0	0
CHD2	1106	broad.mit.edu	37	15	93567671	93567671	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:93567671C>T	ENST00000394196.4	+	39	6291	c.5223C>T	c.(5221-5223)ttC>ttT	p.F1741F		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1741					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGCAGGATTTCCGACGAATGT	0.498000													25	29					0	0	0.005443	0	0
LRP1B	53353	broad.mit.edu	37	2	141607701	141607701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:141607701C>T	ENST00000389484.3	-	29	5880	c.4909G>A	c.(4909-4911)Gga>Aga	p.G1637R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1637					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)		AACCCAGTTCCGTTAATAAAA	0.313000										TSP Lung(27;0.18)			15	48					0	0	0.004007	0	0
IGSF9	57549	broad.mit.edu	37	1	159900975	159900975	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:159900975G>A	ENST00000368094.1	-	13	1787	c.1590C>T	c.(1588-1590)ggC>ggT	p.G530G	IGSF9_ENST00000361509.3_Silent_p.G514G|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	530	Fibronectin type-III 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CACCATCAAAGCCAGGCTCCC	0.552000													21	10					0	0	0.001523	0	0
WNT2	7472	broad.mit.edu	37	7	116960676	116960676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:116960676C>T	ENST00000265441.3	-	2	554	c.255G>A	c.(253-255)tgG>tgA	p.W85*	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	85					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGTTGCAATTCCAGCGGTGCT	0.592000													11	14					0	0	0.001855	0	0
INPP5D	3635	broad.mit.edu	37	2	234106901	234106901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:234106901C>T	ENST00000359570.5	+	27	2818	c.2818C>T	c.(2818-2820)Ccg>Tcg	p.P940S	INPP5D_ENST00000450745.1_Missense_Mutation_p.P704S|INPP5D_ENST00000455936.2_Missense_Mutation_p.P704S			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	952	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CAAGGACTCCCCGCTGGGGCC	0.652000													28	17					0	0	0.008361	0	0
OPRL1	4987	broad.mit.edu	37	20	62724272	62724272	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:62724272C>T	ENST00000349451.3	+	4	611	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	OPRL1_ENST00000355631.4_Silent_p.L67L|OPRL1_ENST00000336866.2_Silent_p.L67L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	67					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CGGAGGGCTCCTGGGGAACTG	0.642000													27	39					0	0	0.006320	0	0
DZIP3	9666	broad.mit.edu	37	3	108363029	108363029	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:108363029A>T	ENST00000361582.3	+	14	1390	c.1160A>T	c.(1159-1161)aAg>aTg	p.K387M	DZIP3_ENST00000463306.1_Missense_Mutation_p.K387M	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	387					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CCTATCTTCAAGCTTGATTAT	0.323000													23	27					0	0	0.003330	0	0
THSD7A	221981	broad.mit.edu	37	7	11418702	11418702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:11418702C>T	ENST00000423059.3	-	26	5047	c.4796G>A	c.(4795-4797)gGg>gAg	p.G1599E	AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1599						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCACCTGGCCCAAATGGCTG	0.453000										HNSCC(18;0.044)			27	31					0	0	0.004656	0	0
NRXN1	9378	broad.mit.edu	37	2	50847263	50847263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:50847263G>A	ENST00000404971.1	-	9	2676	c.1337C>T	c.(1336-1338)aCc>aTc	p.T446I	NRXN1_ENST00000405472.3_Missense_Mutation_p.T398I|NRXN1_ENST00000402717.3_Missense_Mutation_p.T398I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.T406I|NRXN1_ENST00000406859.3_Missense_Mutation_p.T406I|NRXN1_ENST00000401669.2_Missense_Mutation_p.T406I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	406	Laminin G-like 2.				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)			CCCCAGCATGGTATAATCTTC	0.478000													17	16					0	0	0.004990	0	0
LAMA2	3908	broad.mit.edu	37	6	129371187	129371187	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:129371187G>A	ENST00000421865.2	+	2	286	c.237G>A	c.(235-237)agG>agA	p.R79R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	79	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGCCTGTGAGGAACCCGCAGT	0.453000													24	4					0	0	0.004656	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555107	178555107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:178555107C>T	ENST00000251582.7	-	17	2571	c.2470G>A	c.(2470-2472)Gga>Aga	p.G824R		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	824	Spacer.				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)		CGGGTGTCTCCCACCGGGATG	0.577000													20	21					0	0	0.001523	0	0
FAM179B	23116	broad.mit.edu	37	14	45497485	45497485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:45497485C>T	ENST00000361462.2	+	10	3794	c.3611C>T	c.(3610-3612)tCc>tTc	p.S1204F	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.S1204F			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1204							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAAAAAAATTCCTGGGAACGA	0.299000													27	66					0	0	0.008361	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581661	140581661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:140581661C>T	ENST00000354757.3	+	1	2314	c.2314C>T	c.(2314-2316)Cct>Tct	p.P772S	PCDHB11_ENST00000536699.1_Missense_Mutation_p.P407S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		772					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGGTTATCCCTAATATCCA	0.433000													17	32					0	0	0.004990	0	0
MYH7B	57644	broad.mit.edu	37	20	33581950	33581950	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:33581950G>A	ENST00000262873.7	+	25	2664	c.2570_splice	c.e25-1	p.D858_splice		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	816						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCTCCCTAGGGATGCGCTGTT	0.552000													71	78					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179569645	179569645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:179569645C>T	ENST00000589042.1	-	104	29877	c.29653G>A	c.(29653-29655)Gaa>Aaa	p.E9885K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9568K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8641K|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9568	Pro-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)			GATACAAGTTCCTCAAATTCC	0.308000													64	74					0	0	0.003610	0	0
ZDHHC11	79844	broad.mit.edu	37	5	840733	840733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:840733G>A	ENST00000283441.8	-	5	1044	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.L221F|ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000511539.1_Missense_Mutation_p.L8F	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	221						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AACAGGGGGAGGAACAGCAGC	0.592000													89	242					0	0	0.003610	0	0
NCR2	9436	broad.mit.edu	37	6	41318535	41318535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:41318535G>A	ENST00000373089.5	+	5	852	c.764G>A	c.(763-765)aGa>aAa	p.R255K	NCR2_ENST00000373083.4_3'UTR|NCR2_ENST00000373086.3_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	255					cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.R255K(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					cctgtagagagagaaatatta	0.423000													16	27					0	0	0.003163	0	0
TRAV4	28689	broad.mit.edu	37	14	22205223	22205223	+	RNA	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:22205223C>T	ENST00000390426.2	+	0	354																											CCCCGGGTTTCCCTGAGCGAC	0.532000													10	19					0	0	0.001368	0	0
BTN2A2	10385	broad.mit.edu	37	6	26390244	26390244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:26390244C>T	ENST00000356709.4	+	5	847	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	BTN2A2_ENST00000432533.2_Missense_Mutation_p.P152S|BTN2A2_ENST00000352867.2_Missense_Mutation_p.P130S|BTN2A2_ENST00000482536.1_Missense_Mutation_p.P36S|BTN2A2_ENST00000416795.2_Missense_Mutation_p.P246S|BTN2A2_ENST00000469230.1_Missense_Mutation_p.P246S	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	246					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						ATCCTTTATGCCCAGCGCATC	0.493000													51	102					0	0	0.003610	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31525547	31525547	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:31525547C>T	ENST00000376148.4	+	3	591	c.477C>T	c.(475-477)gcC>gcT	p.A159A	NFKBIL1_ENST00000376145.4_Silent_p.A159A	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	159					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AAGATGATGCCTCCAAGGAGC	0.562000													28	52					0	0	0.008361	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45948962	45948962	+	Silent	SNP	C	C	T	rs138897549		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:45948962C>T	ENST00000531526.1	+	11	1533	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	GYLTL1B_ENST00000529052.1_Silent_p.F443F|GYLTL1B_ENST00000536139.1_Silent_p.F443F|GYLTL1B_ENST00000401752.1_Silent_p.F474F|GYLTL1B_ENST00000389968.3_Silent_p.F201F|GYLTL1B_ENST00000325468.5_Silent_p.F474F	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	474				HF -> IS (in Ref. 5; AAG23791).	muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TCCTGCATTTCGTCGAGGCCT	0.617000													18	55					0	0	0.006122	0	0
SHC2	25759	broad.mit.edu	37	19	430738	430738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:430738G>A	ENST00000264554.6	-	9	1119	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	374	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTAGAGAAGGAGATGGGCCC	0.637000													17	14					0	0	0.001523	0	0
ARSJ	79642	broad.mit.edu	37	4	114824226	114824226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:114824226C>T	ENST00000315366.7	-	2	1870	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	ARSJ_ENST00000541197.1_Missense_Mutation_p.G335E	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	335						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GTTACTCCCTCCTGCCGTAGG	0.463000													32	46					0	0	0.008361	0	0
SH3GL2	6456	broad.mit.edu	37	9	17747095	17747095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:17747095G>A	ENST00000380607.4	+	2	197	c.77G>A	c.(76-78)gGa>gAa	p.G26E	SH3GL2_ENST00000537391.1_5'UTR	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	26	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GGAGCTGAAGGAACCAAGCTA	0.358000													14	3					0	0	0.004007	0	0
RYR1	6261	broad.mit.edu	37	19	38959954	38959954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:38959954C>T	ENST00000355481.4	+	27	3697	c.3566C>T	c.(3565-3567)cCc>cTc	p.P1189L	RYR1_ENST00000360985.3_Missense_Mutation_p.P1189L|RYR1_ENST00000359596.3_Missense_Mutation_p.P1189L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1189	6 X approximate repeats.|B30.2/SPRY 2.				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)	GGCTTCCTGCCCGTCTGCAGC	0.652000													17	57					0	0	0.004007	0	0
ZNF671	79891	broad.mit.edu	37	19	58238788	58238788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:58238788G>A	ENST00000317398.6	-	1	204	c.109C>T	c.(109-111)Cct>Tct	p.P37S	ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000596939.1_Missense_Mutation_p.P37S	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P37A(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCGCCATAGGACCGTGGGCG	0.687000													6	14					0	0	0.001168	0	0
MED25	81857	broad.mit.edu	37	19	50333362	50333362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:50333362C>T	ENST00000312865.6	+	7	759	c.706C>T	c.(706-708)Cca>Tca	p.P236S	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	236	Pro-rich.			P -> L (in Ref. 2; CAE84581 and 4; CAB66680).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TGGCTCAGCCCCAGGCCCCCT	0.632000													24	103					0	0	0.005443	0	0
LILRA5	353514	broad.mit.edu	37	19	54818732	54818732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:54818732C>T	ENST00000301219.3	-	7	985	c.866G>A	c.(865-867)aGc>aAc	p.S289N	LILRA5_ENST00000346508.3_Missense_Mutation_p.S277N	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	289					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTTCTCTGGCTGTGCCAATC	0.522000													16	51					0	0	0.004007	0	0
GCG	2641	broad.mit.edu	37	2	163002103	163002103	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:163002103G>A	ENST00000418842.2	-	4	593	c.339C>T	c.(337-339)ggC>ggT	p.G113G	GCG_ENST00000375497.3_Silent_p.G113G	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	113					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	TGGCAGCTTGGCCTTCCAAAT	0.418000													121	74					0	0	0.003610	0	0
ABCA8	10351	broad.mit.edu	37	17	66890438	66890438	+	Missense_Mutation	SNP	G	G	A	rs143022668	byFrequency	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:66890438G>A	ENST00000269080.2	-	21	2929	c.2792C>T	c.(2791-2793)tCg>tTg	p.S931L	ABCA8_ENST00000586539.1_Missense_Mutation_p.S971L|ABCA8_ENST00000430352.2_Missense_Mutation_p.S971L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	931						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)					GCATGCTAACGAAAAGCTGTA	0.313000													9	22					0	0	0.008291	0	0
NUTM1	256646	broad.mit.edu	37	15	34649450	34649450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:34649450C>T	ENST00000537011.1	+	8	3623	c.3241C>T	c.(3241-3243)Cac>Tac	p.H1081Y	NUTM1_ENST00000438749.3_Missense_Mutation_p.H1071Y|NUTM1_ENST00000333756.4_Missense_Mutation_p.H1053Y					NUT midline carcinoma, family member 1																		GAGAGCATCCCACCTGCTCCC	0.567000													10	30					0	0	0.000978	0	0
DPYD	1806	broad.mit.edu	37	1	98187204	98187204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:98187204C>T	ENST00000370192.3	-	5	445	c.345G>A	c.(343-345)atG>atA	p.M115I	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_Missense_Mutation_p.M78I|DPYD_ENST00000306031.5_Missense_Mutation_p.M115I	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	115					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CAGAAAATATCATCTTAGCAG	0.333000													16	53					0	0	0.004990	0	0
COL17A1	1308	broad.mit.edu	37	10	105810657	105810657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:105810657G>A	ENST00000353479.5	-	26	2331	c.2041C>T	c.(2041-2043)Cct>Tct	p.P681S	COL17A1_ENST00000369733.3_Missense_Mutation_p.P681S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	681	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGACCTACAGGACCTGCCCGG	0.532000													26	8					0	0	0.005443	0	0
EDNRA	1909	broad.mit.edu	37	4	148407088	148407088	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:148407088G>A	ENST00000324300.5	+	2	770	c.255G>A	c.(253-255)gtG>gtA	p.V85V	EDNRA_ENST00000506066.1_Silent_p.V85V|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.V85V|EDNRA_ENST00000358556.4_Silent_p.V85V	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	85					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TTAACACTGTGATATCTTGTA	0.428000													29	52					0	0	0.001786	0	0
SLC30A10	55532	broad.mit.edu	37	1	220091757	220091757	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:220091757G>A	ENST00000366926.3	-	3	959	c.798C>T	c.(796-798)ccC>ccT	p.P266P	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Silent_p.P21P	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	266					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CACTCTTCAGGGGAAGCACAT	0.507000													25	73					0	0	0.005443	0	0
LEPR	3953	broad.mit.edu	37	1	66067139	66067139	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:66067139C>T	ENST00000349533.6	+	9	1244	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	LEPR_ENST00000371059.3_Silent_p.I353I|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Silent_p.I353I|LEPR_ENST00000371058.1_Silent_p.I353I|LEPR_ENST00000371060.3_Silent_p.I353I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	353	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTCACTGCATCTATAAGAAGG	0.363000													37	24					0	0	0.005524	0	0
BBOX1	8424	broad.mit.edu	37	11	27114840	27114840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:27114840G>A	ENST00000263182.3	+	5	828	c.460G>A	c.(460-462)Gga>Aga	p.G154R	RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.G154R|BBOX1_ENST00000527505.1_Intron|BBOX1_ENST00000529202.1_Missense_Mutation_p.G154R|BBOX1_ENST00000528583.1_Missense_Mutation_p.G154R|RP11-1L12.3_ENST00000530430.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	154					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	AAGACTCACCGGAGCATCTGA	0.423000													35	43					0	0	0.004878	0	0
ELTD1	64123	broad.mit.edu	37	1	79392644	79392644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:79392644G>A	ENST00000370742.3	-	8	1073	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	337					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CATTGAGACTGAAATTACTGA	0.333000													12	31					0	0	0.001368	0	0
RND1	27289	broad.mit.edu	37	12	49254822	49254822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:49254822C>T	ENST00000309739.5	-	4	541	c.411G>A	c.(409-411)atG>atA	p.M137I		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	137					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GGGACAGCTCCATCAGAGTAC	0.562000													47	67					0	0	0.003610	0	0
SEMG1	6406	broad.mit.edu	37	20	43836379	43836379	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:43836379G>A	ENST00000372781.3	+	2	498	c.441G>A	c.(439-441)ggG>ggA	p.G147G	SEMG1_ENST00000244069.6_Silent_p.G147G	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AAGATCAGGGGAATAGCCCAT	0.423000													17	39					0	0	0.004990	0	0
ETV6	2120	broad.mit.edu	37	12	12022615	12022615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:12022615G>A	ENST00000396373.4	+	5	995	c.721G>A	c.(721-723)Gag>Aag	p.E241K		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	241						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GTCTCCCATGGAGAATAATCA	0.637000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								31	84					0	0	0.002445	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138719414	138719414	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:138719414G>A	ENST00000389532.4	-	8	1126	c.1062C>T	c.(1060-1062)caC>caT	p.H354H	CAMSAP1_ENST00000409386.3_Silent_p.H365H|CAMSAP1_ENST00000312405.6_Silent_p.H76H	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	354						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGCTCTTCTGGTGTAACACTG	0.527000													6	21					0	0	0.001168	0	0
IGLV6-57	28778	broad.mit.edu	37	22	22550605	22550605	+	RNA	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:22550605C>T	ENST00000390285.2	+	0	368																											ACTCTGCCTCCCTCACCATCT	0.542000													27	29					0	0	0.006320	0	0
KCNN2	3781	broad.mit.edu	37	5	113698918	113698918	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:113698918T>C	ENST00000512097.3	+	2	1464	c.446T>C	c.(445-447)aTg>aCg	p.M149T	KCNN2_ENST00000264773.3_Missense_Mutation_p.M149T|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	149						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ATCGTGGTCATGGTCATCGAG	0.637000													13	13					0	0	0.001855	0	0
DMKN	93099	broad.mit.edu	37	19	36001153	36001153	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:36001153C>T	ENST00000339686.3	-	6	1096	c.918_splice	c.e6-1	p.G307_splice	DMKN_ENST00000461300.1_5'UTR|DMKN_ENST00000467637.1_Splice_Site_p.G20_splice|DMKN_ENST00000440396.1_Splice_Site_p.G307_splice|DMKN_ENST00000488892.1_Splice_Site_p.G20_splice|DMKN_ENST00000424570.2_Splice_Site_p.G307_splice|DMKN_ENST00000447113.2_Splice_Site_p.G307_splice|DMKN_ENST00000436012.1_Splice_Site_p.G20_splice|DMKN_ENST00000458071.1_Splice_Site_p.G20_splice|DMKN_ENST00000492341.2_5'UTR|DMKN_ENST00000414866.2_Splice_Site_p.G20_splice|DMKN_ENST00000472252.2_5'UTR|DMKN_ENST00000451297.2_Splice_Site_p.G307_splice|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000392206.2_Splice_Site_p.G20_splice|DMKN_ENST00000429837.1_Splice_Site_p.G246_splice|DMKN_ENST00000419602.1_Splice_Site_p.G246_splice|DMKN_ENST00000480502.1_Splice_Site_p.G20_splice|DMKN_ENST00000418261.1_Splice_Site_p.G307_splice|DMKN_ENST00000443640.1_Splice_Site_p.G20_splice|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000602781.1_Splice_Site_p.G20_splice|DMKN_ENST00000402589.2_Splice_Site_p.G20_splice	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	307	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGTGCTGGATCCCTGCAGGGG	0.582000											OREG0025431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5					0	0	0.004672	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589325	140589325	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:140589325C>T	ENST00000239450.2	+	1	1035	c.846C>T	c.(844-846)tcC>tcT	p.S282S	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		282	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATACCTTTTCCCATGCCTCAG	0.408000													27	90					0	0	0.003954	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045235	76045235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:76045235C>T	ENST00000335749.4	+	3	661	c.92C>T	c.(91-93)cCt>cTt	p.P31L	TNRC6C_ENST00000541771.1_Missense_Mutation_p.P31L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P31L|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P31L|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P31L|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P31L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	31	Sufficient for interaction with argonaute family proteins.				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)			GTCCAAAGCCCTTCTAATCAG	0.562000													30	49					0	0	0.001786	0	0
PCNXL2	80003	broad.mit.edu	37	1	233152691	233152691	+	Silent	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:233152691T>C	ENST00000258229.8	-	27	5049	c.4815A>G	c.(4813-4815)caA>caG	p.Q1605Q	PCNXL2_ENST00000344698.2_Silent_p.Q257Q	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1605						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGCACAGTGTTGAATCCATT	0.433000													37	46					0	0	0.004878	0	0
FLG	2312	broad.mit.edu	37	1	152275800	152275800	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:152275800C>T	ENST00000368799.1	-	3	11597	c.11562G>A	c.(11560-11562)agG>agA	p.R3854R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3854	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGCTTCTCCTGGACCCCG	0.592000									Ichthyosis				83	216					0	0	0.003610	0	0
KCMF1	56888	broad.mit.edu	37	2	85270738	85270738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:85270738G>A	ENST00000409785.3	+	4	735	c.376G>A	c.(376-378)Gat>Aat	p.D126N		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	126						intracellular	ligase activity|zinc ion binding			ovary(3)	3						TCATGTCACGGATGACTTTGC	0.383000													15	19					0	0	0.003163	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519888	113519888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:113519888C>T	ENST00000284601.3	-	4	1327	c.1259G>A	c.(1258-1260)gGa>gAa	p.G420E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	420					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACTAGTATCTCCCAATGATGG	0.398000													22	122					0	0	0.002299	0	0
MYO19	80179	broad.mit.edu	37	17	34866603	34866603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:34866603G>A	ENST00000431794.3	-	13	1661	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V	MYO19_ENST00000268852.9_Missense_Mutation_p.A380V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	380	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GATCAGTTTGGCCAGGCAGTC	0.607000													10	4					0	0	0.006214	0	0
SMC1A	8243	broad.mit.edu	37	X	53436194	53436194	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:53436194G>A	ENST00000322213.4	-	9	1471	c.1344C>T	c.(1342-1344)tcC>tcT	p.S448S	SMC1A_ENST00000375340.6_Silent_p.S214S	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	448					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCTCTTCTAGGGACTGCCTAC	0.542000													9	0					0	0	0.006214	0	0
PLCB2	5330	broad.mit.edu	37	15	40599844	40599844	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:40599844G>A	ENST00000260402.3	-	1	279	c.30C>T	c.(28-30)ccC>ccT	p.P10P	PLCB2_ENST00000557821.1_Silent_p.P10P|PLCB2_ENST00000543785.2_Silent_p.P10P|PLCB2_ENST00000456256.2_Silent_p.P10P	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	10					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCACCTTGGGGGGCAGCAGGA	0.607000													19	26					0	0	0.002299	0	0
TCEA3	6920	broad.mit.edu	37	1	23724446	23724446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:23724446G>A	ENST00000450454.2	-	6	552	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	149	Ser-rich.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		GCTGCTGTTTGATCTGAGGAT	0.458000													12	19					0	0	0.001855	0	0
HAS1	3036	broad.mit.edu	37	19	52222590	52222590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:52222590G>A	ENST00000540069.2	-	2	628	c.568C>T	c.(568-570)Cct>Tct	p.P190S	HAS1_ENST00000601714.1_Missense_Mutation_p.P198S|HAS1_ENST00000594621.1_Missense_Mutation_p.P45S|HAS1_ENST00000222115.1_Missense_Mutation_p.P191S			Q92839	HAS1_HUMAN	hyaluronan synthase 1	191					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGCCGCCCAGGATCCTCCGCC	0.716000													4	13					0	0	0.000248	0	0
PDIA4	9601	broad.mit.edu	37	7	148702402	148702402	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:148702402G>A	ENST00000286091.4	-	9	1585	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	451					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CGTCCGCAATGGCAAAGGTGT	0.587000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	90	50					0	0	0.003610	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21427461	21427461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:21427461C>T	ENST00000307378.6	-	15	2455	c.1735G>A	c.(1735-1737)Gga>Aga	p.G579R	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.G447R|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G579R|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.G447R	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	579					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCAAAGTTCCCCAGTGTAAA	0.358000													34	51					0	0	0.002836	0	0
C15orf27	123591	broad.mit.edu	37	15	76496210	76496210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:76496210G>A	ENST00000388942.3	+	11	1426	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	384						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TGGCACCAGCGCCACCTCGGA	0.632000													21	48					0	0	0.008871	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475519	140475519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:140475519G>A	ENST00000194155.4	+	1	1293	c.1145G>A	c.(1144-1146)aGg>aAg	p.R382K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		382	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACAACGGAAGGATGGTGTGC	0.473000													7	31					0	0	0.001984	0	0
PPEF2	5470	broad.mit.edu	37	4	76794331	76794331	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:76794331G>A	ENST00000286719.7	-	12	1811	c.1455C>T	c.(1453-1455)atC>atT	p.I485I		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	485	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CATGTGAACGGATCAGGAATT	0.478000													34	51					0	0	0.002836	0	0
GIPC1	10755	broad.mit.edu	37	19	14589320	14589320	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:14589320G>A	ENST00000393033.4	-	9	1179	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	GIPC1_ENST00000586027.1_Silent_p.L304L|GIPC1_ENST00000591349.1_Silent_p.L207L|GIPC1_ENST00000393028.1_Silent_p.L207L|GIPC1_ENST00000393029.3_Silent_p.L207L|GIPC1_ENST00000345425.2_Silent_p.L304L	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	304					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CGTTCGTCCAGGGCCTCGGCC	0.622000													21	18					0	0	0.008871	0	0
HECTD4	283450	broad.mit.edu	37	12	112616865	112616865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:112616865G>A	ENST00000550722.1	-	64	11190	c.10795C>T	c.(10795-10797)Cca>Tca	p.P3599S	HECTD4_ENST00000430131.2_Missense_Mutation_p.P3323S|HECTD4_ENST00000377560.5_Missense_Mutation_p.P3573S	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TTGGGCTTTGGCACGCCATAC	0.642000													9	27					0	0	0.008291	0	0
FOXK2	3607	broad.mit.edu	37	17	80529660	80529660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:80529660C>T	ENST00000335255.5	+	4	997	c.823C>T	c.(823-825)Ccc>Tcc	p.P275S		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	275					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TACGATGGCTCCCGACAAACA	0.443000													15	22					0	0	0.004007	0	0
FCRL6	343413	broad.mit.edu	37	1	159779367	159779367	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:159779367C>T	ENST00000321935.6	+	6	887	c.801C>T	c.(799-801)tcC>tcT	p.S267S	FCRL6_ENST00000339348.5_Silent_p.S260S|FCRL6_ENST00000368106.3_Silent_p.S260S|FCRL6_ENST00000392235.3_Silent_p.S165S			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	260	Ig-like C2-type 3.					integral to membrane		p.S260F(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GAACCACCTCCCTCCTCTTCC	0.557000													18	48					0	0	0.007413	0	0
ACOT11	26027	broad.mit.edu	37	1	55063070	55063070	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:55063070T>G	ENST00000371316.3	+	7	828	c.746T>G	c.(745-747)gTg>gGg	p.V249G	ACOT11_ENST00000343744.2_Missense_Mutation_p.V249G|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	249	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						ATGGAGAATGTGGCCACCATT	0.632000													8	9					0	0	0.004482	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965629	35965629	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:35965629C>T	ENST00000274278.3	-	4	1059	c.702G>A	c.(700-702)agG>agA	p.R234R	UGT3A1_ENST00000507113.1_Silent_p.R200R|UGT3A1_ENST00000503189.1_Silent_p.R234R|UGT3A1_ENST00000333811.4_Silent_p.R180R|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	234						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAAAACTGGCCTAGAGCCTT	0.433000													34	29					0	0	0.005524	0	0
ZNF619	285267	broad.mit.edu	37	3	40529712	40529712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:40529712C>T	ENST00000447116.2	+	6	2138	c.1831C>T	c.(1831-1833)Cct>Tct	p.P611S	ZNF619_ENST00000314686.5_Missense_Mutation_p.P555S|ZNF619_ENST00000432264.2_Missense_Mutation_p.P571S|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.P611S|ZNF619_ENST00000456778.1_Missense_Mutation_p.P527S|ZNF619_ENST00000522736.1_Missense_Mutation_p.P562S|ZNF619_ENST00000429348.2_Missense_Mutation_p.P571S	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	611					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAGCCCGAATCCTTTGTCTCA	0.473000													24	66					0	0	0.003954	0	0
C5	727	broad.mit.edu	37	9	123780002	123780002	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:123780002G>A	ENST00000223642.1	-	13	1664	c.1635C>T	c.(1633-1635)atC>atT	p.I545I		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	545					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTCCTGTGACGATGTAATAGA	0.398000													22	12					0	0	0.002780	0	0
C4orf40	401137	broad.mit.edu	37	4	71024285	71024285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:71024285C>T	ENST00000344526.5	+	3	505	c.316C>T	c.(316-318)Cct>Tct	p.P106S	C4orf40_ENST00000502294.1_Missense_Mutation_p.P106S|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	106						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCCTCTCCCTCCTAGGGGTTT	0.527000													109	149					0	0	0.003610	0	0
ATHL1	80162	broad.mit.edu	37	11	293412	293412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:293412C>T	ENST00000409548.2	+	9	1505	c.1390C>T	c.(1390-1392)Ccc>Tcc	p.P464S	ATHL1_ENST00000409655.1_Intron|ATHL1_ENST00000409479.1_Missense_Mutation_p.P491S	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	464					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCTTCCCATCCCCAGCCAGTG	0.627000													20	32					0	0	0.007413	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901663	160901663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:160901663C>A	ENST00000283243.7	-	2	321	c.115G>T	c.(115-117)Gga>Tga	p.G39*	PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.G39*	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	39	Ricin B-type lectin.				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						ACAAATATTCCTTTATCTGAA	0.378000													10	26					2.17888e-05	2.55533e-05	0.006214	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	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				47	25					0	0	0.003610	0	0
KCNS3	3790	broad.mit.edu	37	2	18113407	18113407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:18113407C>T	ENST00000403915.1	+	3	1583	c.1132C>T	c.(1132-1134)Ccg>Tcg	p.P378S	KCNS3_ENST00000304101.4_Missense_Mutation_p.P378S|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	378	Segment H5 (pore-forming) (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGACACCCACCCGGTCACCTT	0.557000													30	28					0	0	0.007291	0	0
CDK18	5129	broad.mit.edu	37	1	205492667	205492667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:205492667C>T	ENST00000360066.2	+	3	488	c.187C>T	c.(187-189)Cca>Tca	p.P63S	CDK18_ENST00000506784.1_Missense_Mutation_p.P63S|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Missense_Mutation_p.P63S	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	61							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CACCTTCTCCCCAACAGACAG	0.667000													8	2					0	0	0.008291	0	0
OFCC1	266553	broad.mit.edu	37	6	9933174	9933174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:9933174C>T	ENST00000316020.6	-	4	288	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TCTCTATCTTCTTTAACTAGA	0.383000													77	118					0	0	0.003610	0	0
C6	729	broad.mit.edu	37	5	41186306	41186306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:41186306G>A	ENST00000263413.3	-	6	856	c.592C>T	c.(592-594)Cat>Tat	p.H198Y	C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Missense_Mutation_p.H198Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	198	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCCAGAAAATGAAACCTAGAA	0.353000													10	29					0	0	0.008291	0	0
OR5R1	219479	broad.mit.edu	37	11	56184981	56184981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:56184981G>A	ENST00000312253.1	-	1	727	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S243F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CACCATATGGGAGCCACAGGT	0.458000													45	83					0	0	0.003610	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													6	57					0	0	0.001168	0	0
TRIO	7204	broad.mit.edu	37	5	14280524	14280524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:14280524C>T	ENST00000344204.4	+	3	350	c.326C>T	c.(325-327)tCc>tTc	p.S109F	TRIO_ENST00000509967.2_Missense_Mutation_p.S60F|TRIO_ENST00000537187.1_Missense_Mutation_p.S109F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	109	CRAL-TRIO.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGACTCATTTCCTATCTAGCC	0.458000													12	35					0	0	0.003163	0	0
NCAPG	64151	broad.mit.edu	37	4	17829963	17829963	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:17829963C>T	ENST00000251496.2	+	12	1892	c.1716C>T	c.(1714-1716)tcC>tcT	p.S572S		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	572					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AGCAGATGTCCATTTCAACAG	0.343000													22	44					0	0	0.004656	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758752	62758752	+	RNA	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:62758752C>T	ENST00000331425.6	-	0	125					NR_003952.1																						ATAGCTATGTCTCTGAATGTC	0.403000													13	75					0	0	0.001882	0	0
CMIP	80790	broad.mit.edu	37	16	81730266	81730266	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:81730266C>T	ENST00000537098.3	+	14	1704	c.1632C>T	c.(1630-1632)gcC>gcT	p.A544A	CMIP_ENST00000398040.4_Silent_p.A391A|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.A450A	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	510						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						AGCTGTTCGCCAGCATGGTAC	0.657000													25	15					0	0	0.006320	0	0
NPAP1	23742	broad.mit.edu	37	15	24922182	24922182	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:24922182A>G	ENST00000329468.2	+	1	1642	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGAGACCATGACAAACAGCAG	0.537000													8	24					0	0	0.004482	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060252	35060252	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:35060252C>T	ENST00000373913.3	+	3	612	c.132C>T	c.(130-132)gcC>gcT	p.A44A	DLGAP4_ENST00000339266.5_Silent_p.A44A|DLGAP4_ENST00000373907.2_Silent_p.A44A|DLGAP4_ENST00000401952.2_Silent_p.A44A			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	44					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCGCGAGGCCCGCTTCCCCG	0.672000													20	32					0	0	0.001882	0	0
NEU3	10825	broad.mit.edu	37	11	74716573	74716573	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:74716573G>T	ENST00000294064.4	+	3	1349	c.422G>T	c.(421-423)cGg>cTg	p.R141L	NEU3_ENST00000532963.1_Silent_p.A70A|NEU3_ENST00000531509.1_Missense_Mutation_p.R141L|NEU3_ENST00000529024.1_Silent_p.A70A|NEU3_ENST00000544263.1_Missense_Mutation_p.R108L|NEU3_ENST00000545272.1_Missense_Mutation_p.R32L	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	141										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						ATCTGTGTGCGGGGCCATGTC	0.547000													37	40					1.06647e-15	1.26397e-15	0.003755	1	0
SALL1	6299	broad.mit.edu	37	16	51171209	51171209	+	Silent	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:51171209A>G	ENST00000440970.1	-	3	3929	c.3498T>C	c.(3496-3498)atT>atC	p.I1166I	SALL1_ENST00000251020.4_Silent_p.I1263I|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Silent_p.I86I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1263					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCTTCCAGGAATTGGAGGGA	0.597000													35	36					0	0	0.003755	0	0
F13B	2165	broad.mit.edu	37	1	197024856	197024856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:197024856G>A	ENST00000367412.1	-	8	1386	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	448	Sushi 7.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CAAGCAAACAGGTGGGGATGA	0.353000													17	47					0	0	0.002299	0	0
PADI3	51702	broad.mit.edu	37	1	17599850	17599850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:17599850G>A	ENST00000375460.3	+	10	1103	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	355					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GATGGAGCTGGGCTACGTTCA	0.597000													23	37					0	0	0.008361	0	0
COL24A1	255631	broad.mit.edu	37	1	86591026	86591026	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:86591026C>T	ENST00000370571.2	-	3	1359	c.993G>A	c.(991-993)ggG>ggA	p.G331G	COL24A1_ENST00000436319.1_Silent_p.G331G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	331					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGGCCTGAATCCCATGGTTTG	0.418000													12	43					0	0	0.000978	0	0
PRMT2	3275	broad.mit.edu	37	21	48064320	48064320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr21:48064320C>T	ENST00000397637.1	+	4	1201	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	PRMT2_ENST00000458387.2_Missense_Mutation_p.H83Y|PRMT2_ENST00000397638.2_Missense_Mutation_p.H83Y|PRMT2_ENST00000291705.6_Missense_Mutation_p.H83Y|PRMT2_ENST00000334494.4_Missense_Mutation_p.H83Y|PRMT2_ENST00000451211.2_Missense_Mutation_p.H83Y|PRMT2_ENST00000440086.1_Missense_Mutation_p.H83Y|PRMT2_ENST00000355680.3_Missense_Mutation_p.H83Y|PRMT2_ENST00000397628.1_Missense_Mutation_p.H83Y			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	83	Interaction with RB1 (By similarity).|SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TCCGGCAAACCATGTGGGGAA	0.512000													57	21					0	0	0.003610	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105883952	105883952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:105883952G>A	ENST00000393359.2	-	12	2897	c.2471C>T	c.(2470-2472)cCc>cTc	p.P824L	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P824L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	824					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCACAAAAGGGATTTTGGCA	0.473000													21	46					0	0	0.002299	0	0
LAMB4	22798	broad.mit.edu	37	7	107704409	107704409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:107704409G>A	ENST00000388781.3	-	22	2941	c.2858C>T	c.(2857-2859)tCt>tTt	p.S953F	LAMB4_ENST00000388780.3_Missense_Mutation_p.S953F|LAMB4_ENST00000205386.4_Missense_Mutation_p.S953F	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	953	Laminin EGF-like 9.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GAAACCAGTAGAGCATTCTCC	0.473000													31	75					0	0	0.002096	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144863441	144863441	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:144863441G>A	ENST00000369359.4	-	40	6408	c.6368_splice	c.e40-1	p.L2124_splice	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Splice_Site_p.L2073_splice|PDE4DIP_ENST00000313382.9_Splice_Site_p.L1882_splice|PDE4DIP_ENST00000369354.3_Splice_Site_p.L1988_splice|PDE4DIP_ENST00000369356.4_Splice_Site_p.L1988_splice|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1988					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)		TTGTGCTGCAGTCTGACCAGG	0.527000			T	PDGFRB	MPD								57	224					0	0	0.003610	0	0
ALG5	29880	broad.mit.edu	37	13	37567800	37567800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:37567800G>A	ENST00000239891.3	-	4	361	c.295C>T	c.(295-297)Cct>Tct	p.P99S	ALG5_ENST00000413537.2_Missense_Mutation_p.P99S|ALG5_ENST00000443765.1_Intron|ALG5_ENST00000496689.1_5'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	99					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GTGAACGCAGGATCTCGTTTC	0.313000													46	55					0	0	0.003610	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484772	97484772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:97484772G>A	ENST00000376705.2	+	2	760	c.736G>A	c.(736-738)Gat>Aat	p.D246N		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	246	3'-phosphate binding (Potential).					integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AATGTTACGGGATCCAGTGTC	0.418000													21	20					0	0	0.002780	0	0
ANO10	55129	broad.mit.edu	37	3	43591317	43591317	+	Silent	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:43591317A>G	ENST00000292246.3	-	11	1862	c.1692T>C	c.(1690-1692)gtT>gtC	p.V564V	ANO10_ENST00000451430.2_Silent_p.V453V|ANO10_ENST00000396091.3_Silent_p.V498V|ANO10_ENST00000350459.4_Silent_p.V374V|ANO10_ENST00000414522.2_Silent_p.V564V	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	564					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CCACAGATATAACACTCATCG	0.358000													11	34					0	0	0.001368	0	0
SCN11A	11280	broad.mit.edu	37	3	38927694	38927694	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:38927694C>T	ENST00000450244.1	-	16	3069	c.2871G>A	c.(2869-2871)acG>acA	p.T957T	SCN11A_ENST00000302328.3_Silent_p.T957T|SCN11A_ENST00000444237.2_Silent_p.T957T|SCN11A_ENST00000456224.3_Intron			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	957					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTCTCTGGCTCGTGGGCTTCT	0.443000													29	34					0	0	0.001786	0	0
DNAH8	1769	broad.mit.edu	37	6	38906668	38906668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:38906668G>A	ENST00000359357.3	+	77	11514	c.11260G>A	c.(11260-11262)Gaa>Aaa	p.E3754K	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3971K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E3718K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGCCTATACGAAAACCACAA	0.373000													10	42					0	0	0.000978	0	0
PYGO2	90780	broad.mit.edu	37	1	154932091	154932091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:154932091G>A	ENST00000368457.2	-	3	556	c.385C>T	c.(385-387)Ctc>Ttc	p.L129F	PYGO2_ENST00000368456.1_Missense_Mutation_p.L92F	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	129	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCGACGGAGTGGCTGGGGG	0.672000													45	35					0	0	0.002852	0	0
PCNXL2	80003	broad.mit.edu	37	1	233122064	233122064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:233122064C>T	ENST00000258229.8	-	33	6248	c.6014G>A	c.(6013-6015)gGc>gAc	p.G2005D	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G657D	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	2005	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTCAGGTGGCCGGTGGTGGT	0.687000													3	6					0	0	0.004672	0	0
PCDH15	65217	broad.mit.edu	37	10	55581797	55581797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:55581797C>T	ENST00000361849.3	-	34	6089	c.5695G>A	c.(5695-5697)Gct>Act	p.A1899T	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.A751T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1874T|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1857T|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1897T|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1828T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1894T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1897					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)				TACATGTTAGCTACTGATTTT	0.368000										HNSCC(58;0.16)			69	19					0	0	0.003610	0	0
ILDR1	286676	broad.mit.edu	37	3	121720271	121720271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:121720271C>T	ENST00000273691.3	-	5	635	c.530G>A	c.(529-531)gGa>gAa	p.G177E	ILDR1_ENST00000344209.5_Missense_Mutation_p.G177E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.G189E|ILDR1_ENST00000393631.1_Intron	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	177						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GAGGAGGGCTCCCAGGATGAT	0.547000													6	26					0	0	0.001168	0	0
AUTS2	26053	broad.mit.edu	37	7	70255264	70255264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:70255264C>T	ENST00000342771.4	+	19	3383	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L	AUTS2_ENST00000406775.2_Missense_Mutation_p.S997L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1021										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCCTGGCCTCGATGCCCATG	0.682000													5	23					0	0	0.000602	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965889	35965889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:35965889C>T	ENST00000274278.3	-	4	799	c.442G>A	c.(442-444)Gat>Aat	p.D148N	UGT3A1_ENST00000507113.1_Missense_Mutation_p.D114N|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D148N|UGT3A1_ENST00000333811.4_Missense_Mutation_p.D94N|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	148						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAACAGAAATCAAATGCTTCA	0.393000													10	31					0	0	0.008291	0	0
MAPK7	5598	broad.mit.edu	37	17	19284080	19284080	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:19284080C>T	ENST00000308406.5	+	4	944	c.558C>T	c.(556-558)tcC>tcT	p.S186S	MAPK7_ENST00000395604.3_Silent_p.S186S|MAPK7_ENST00000395602.4_Silent_p.S186S|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Silent_p.S47S	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	186	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TGAAGCCCTCCAACCTATTGG	0.552000													10	11					0	0	0.006214	0	0
WDR1	9948	broad.mit.edu	37	4	10105519	10105519	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:10105519C>T	ENST00000382452.2	-	3	512		c.e3+1		WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Splice_Site	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1						platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCATACAGTACCTCCGGAGGC	0.642000													4	6					0	0	0.000602	0	0
PM20D1	148811	broad.mit.edu	37	1	205813990	205813990	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:205813990C>T	ENST00000367136.4	-	4	569	c.525G>A	c.(523-525)agG>agA	p.R175R	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	175						extracellular region	metal ion binding|peptidase activity	p.R175S(1)		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)			GGATGTACTTCCTGATCAGCA	0.493000													49	36					0	0	0.003610	0	0
CLIP4	79745	broad.mit.edu	37	2	29356623	29356623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:29356623C>T	ENST00000320081.5	+	5	725	c.470C>T	c.(469-471)gCt>gTt	p.A157V	CLIP4_ENST00000401605.1_Missense_Mutation_p.A157V|CLIP4_ENST00000401617.2_Missense_Mutation_p.A50V|CLIP4_ENST00000404424.1_Missense_Mutation_p.A157V	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	157										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTGCATTATGCTGCTTATTTT	0.368000													13	27					0	0	0.001855	0	0
COPB2	9276	broad.mit.edu	37	3	139092233	139092233	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:139092233T>C	ENST00000333188.5	-	9	1097	c.916A>G	c.(916-918)Atg>Gtg	p.M306V	COPB2_ENST00000507777.1_Missense_Mutation_p.M277V	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	306					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCCATGGACATGGCAGGTTCC	0.398000													13	37					0	0	0.003163	0	0
ZNF485	220992	broad.mit.edu	37	10	44112785	44112785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:44112785C>T	ENST00000361807.3	+	5	1488	c.1294C>T	c.(1294-1296)Cat>Tat	p.H432Y	ZNF485_ENST00000374437.2_Missense_Mutation_p.H341Y|ZNF485_ENST00000374435.3_Missense_Mutation_p.H432Y	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TAAGAAAATTCATAATAAAGA	0.358000													20	8					0	0	0.001523	0	0
DUOX2	50506	broad.mit.edu	37	15	45399580	45399580	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:45399580G>A	ENST00000389039.6	-	14	2041	c.1656C>T	c.(1654-1656)ccC>ccT	p.P552P	DUOX2_ENST00000603300.1_Silent_p.P552P			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	552	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCAGGGCACTGGGGTCAATGT	0.517000													18	46					0	0	0.001523	0	0
DOK5	55816	broad.mit.edu	37	20	53208205	53208205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:53208205G>A	ENST00000262593.5	+	5	810	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	DOK5_ENST00000395939.1_Missense_Mutation_p.E46K	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	154	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TGTACATGGCGAATGTGCCTT	0.438000													51	71					0	0	0.003610	0	0
TOM1	10043	broad.mit.edu	37	22	35729441	35729441	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:35729441C>T	ENST00000411850.1	+	10	1103	c.978C>T	c.(976-978)ggC>ggT	p.G326G	TOM1_ENST00000447733.1_Silent_p.G293G|TOM1_ENST00000449058.2_Silent_p.G326G|TOM1_ENST00000436462.2_Silent_p.G288G|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000425375.1_Silent_p.G281G	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	326					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TCGACATGGGCCCTGACCCAG	0.607000													16	35					0	0	0.001523	0	0
NEB	4703	broad.mit.edu	37	2	152534256	152534256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:152534256C>T	ENST00000397345.3	-	34	3799	c.3597G>A	c.(3595-3597)tgG>tgA	p.W1199*	NEB_ENST00000409198.1_Nonsense_Mutation_p.W1199*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W1199*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W1199*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W1199*|NEB_ENST00000172853.10_Nonsense_Mutation_p.W1199*	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1199					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCCTTTCATCCAGTTGTTGT	0.458000													71	175					0	0	0.003610	0	0
HCN4	10021	broad.mit.edu	37	15	73621928	73621928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:73621928G>A	ENST00000261917.3	-	4	2569	c.1576C>T	c.(1576-1578)Cag>Tag	p.Q526*		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	526					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TCCTGGTACTGGCGCCGGGAG	0.642000													29	12					0	0	0.002096	0	0
SYCP1	6847	broad.mit.edu	37	1	115537360	115537360	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:115537360G>A	ENST00000369522.3	+	31	2985	c.2745G>A	c.(2743-2745)agG>agA	p.R915R	SYCP1_ENST00000369518.1_Silent_p.R915R|SYCP1_ENST00000477590.1_3'UTR	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	915					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACTGTATAGGAACAATAATC	0.279000													16	12					0	0	0.006122	0	0
PTPRT	11122	broad.mit.edu	37	20	40714436	40714436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:40714436C>T	ENST00000373198.3	-	29	4205	c.3970G>A	c.(3970-3972)Gag>Aag	p.E1324K	PTPRT_ENST00000356100.2_Missense_Mutation_p.E1311K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E1292K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E1312K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E1301K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E1302K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E1305K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1302	Tyrosine-protein phosphatase 2.		R -> L (in a lung cancer; reduced phosphatase activity).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAGACGAACTCCACCTGGATG	0.552000													47	57					0	0	0.003610	0	0
DCDC2	51473	broad.mit.edu	37	6	24205394	24205394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:24205394G>A	ENST00000378450.3	-	1	137	c.118C>T	c.(118-120)Cca>Tca	p.P40S	DCDC2_ENST00000378454.3_Intron			Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	68	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CTGAATGCTGGAATTACAATC	0.413000													50	46					0	0	0.003610	0	0
TP63	8626	broad.mit.edu	37	3	189587118	189587118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:189587118C>T	ENST00000264731.3	+	9	1224	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	TP63_ENST00000392461.3_Missense_Mutation_p.R285C|TP63_ENST00000382063.4_Missense_Mutation_p.R294C|TP63_ENST00000320472.5_Missense_Mutation_p.R379C|TP63_ENST00000440651.2_Missense_Mutation_p.R375C|TP63_ENST00000392460.3_Missense_Mutation_p.R379C|TP63_ENST00000418709.2_Missense_Mutation_p.R379C|TP63_ENST00000437221.1_Missense_Mutation_p.R285C|TP63_ENST00000449992.1_Missense_Mutation_p.R200C|TP63_ENST00000456148.1_Missense_Mutation_p.R281C|TP63_ENST00000392463.2_Missense_Mutation_p.R285C|TP63_ENST00000354600.5_Missense_Mutation_p.R285C	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)			12	28					0	0	0.003163	0	0
PCLO	27445	broad.mit.edu	37	7	82784725	82784725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:82784725G>A	ENST00000423517.2	-	2	1569	c.1232C>T	c.(1231-1233)cCa>cTa	p.P411L	PCLO_ENST00000333891.8_Missense_Mutation_p.P411L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	362	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCTGGGTTGGAGGCTTTGC	0.577000													97	64					0	0	0.003610	0	0
PPP1R18	170954	broad.mit.edu	37	6	30653724	30653724	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:30653724G>A	ENST00000274853.3	-	1	1948	c.72C>T	c.(70-72)ggC>ggT	p.G24G	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Silent_p.G24G	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	24						cytoplasm|cytoskeleton	actin binding										CTTTCTCTCGGCCTCGAACGG	0.677000													90	105					0	0	0.003610	0	0
OR2M2	391194	broad.mit.edu	37	1	248343915	248343915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:248343915C>T	ENST00000359682.2	+	1	628	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTTGTTTTCCCTGTTGCAAT	0.423000													84	143					0	0	0.003610	0	0
TENM1	10178	broad.mit.edu	37	X	123680790	123680790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:123680790C>T	ENST00000422452.2	-	15	2648	c.2585G>A	c.(2584-2586)cGa>cAa	p.R862Q	TENM1_ENST00000371130.3_Missense_Mutation_p.R862Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GAATTTGATTCGATCATAAAA	0.408000													48	7					0	0	0.003214	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44217799	44217799	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:44217799A>G	ENST00000371554.1	+	5	770	c.556A>G	c.(556-558)Aaa>Gaa	p.K186E	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.K186E|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.K186E			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	186					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTCCATCTTAAAGAAGATCA	0.443000													22	46					0	0	0.008361	0	0
PARP9	83666	broad.mit.edu	37	3	122274841	122274841	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:122274841G>A	ENST00000462315.1	-	4	470	c.177C>T	c.(175-177)acC>acT	p.T59T	PARP9_ENST00000471785.1_Silent_p.T59T|PARP9_ENST00000360356.2_Silent_p.T94T|PARP9_ENST00000477522.2_Silent_p.T59T|PARP9_ENST00000492382.1_Intron	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	94					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GAGAGACCAGGGTAGAGATAC	0.413000													16	19					0	0	0.003163	0	0
ADAM12	8038	broad.mit.edu	37	10	127753538	127753538	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:127753538G>A	ENST00000368679.4	-	14	1764	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Silent_p.S485S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	485	Disintegrin.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AGGAGTTGCTGGAGTCCCTGC	0.597000													7	4					0	0	0.001984	0	0
CCDC59	29080	broad.mit.edu	37	12	82751030	82751030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:82751030C>T	ENST00000256151.7	-	2	584	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CAGTTTTCTTCGAAAAGCAAA	0.358000													20	27					0	0	0.001523	0	0
OR14C36	127066	broad.mit.edu	37	1	248512703	248512703	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:248512703C>T	ENST00000317861.1	+	1	627	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GCGGCTGTTTCATCTTTATCA	0.502000													43	92					0	0	0.003214	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799182	16799182	+	Nonstop_Mutation	SNP	G	G	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:16799182G>C	ENST00000187762.2	+	6	991	c.900G>C	c.(898-900)taG>taC	p.*300Y		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	0						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						AGGCGGATTAGGGGGTGGCCC	0.642000													11	22					0	0	0.000978	0	0
KLF4	9314	broad.mit.edu	37	9	110249674	110249674	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:110249674A>G	ENST00000374672.4	-	3	1474	c.1001T>C	c.(1000-1002)cTg>cCg	p.L334P		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	334	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						AGGAAGCGGCAGGGCAGGGTG	0.662000													5	0					0	0	0.000602	0	0
HAS3	3038	broad.mit.edu	37	16	69148696	69148696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:69148696G>A	ENST00000306560.1	+	4	1345	c.1189G>A	c.(1189-1191)Gtt>Att	p.V397I	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.V397I	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	397					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CATTGCCACGGTTATACAGCT	0.547000													24	112					0	0	0.006320	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591720	46591720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:46591720C>T	ENST00000398637.5	-	15	1940	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	SLC38A1_ENST00000549049.1_Missense_Mutation_p.D416N|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D416N|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D416N|SLC38A1_ENST00000552197.1_Missense_Mutation_p.D416N	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	416					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCAAAAATATCCTTCATGGAG	0.383000													19	21					0	0	0.001523	0	0
TBX4	9496	broad.mit.edu	37	17	59560639	59560639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:59560639G>A	ENST00000393853.4	+	9	1566	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	TBX4_ENST00000240335.1_Missense_Mutation_p.G467E|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	467					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						CAGCCACCAGGAAATGCCCAC	0.647000													38	54					0	0	0.006230	0	0
FGGY	55277	broad.mit.edu	37	1	60091681	60091681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:60091681C>T	ENST00000371218.4	+	10	1217	c.1033C>T	c.(1033-1035)Cat>Tat	p.H345Y	FGGY_ENST00000303721.7_Missense_Mutation_p.H345Y|FGGY_ENST00000371212.1_Missense_Mutation_p.H257Y|FGGY_ENST00000371210.1_Missense_Mutation_p.H46Y|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	345					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GGTACAAGGCCATGCTGCTTT	0.348000													6	29					0	0	0.003080	0	0
ANAPC1	64682	broad.mit.edu	37	2	112592251	112592251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:112592251C>T	ENST00000341068.3	-	19	3086	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	772					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AACTTAAGCTCCTCATACACA	0.378000													9	25					0	0	0.006214	0	0
FAT3	120114	broad.mit.edu	37	11	92538510	92538510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:92538510G>A	ENST00000298047.6	+	10	9105	c.9088G>A	c.(9088-9090)Gat>Aat	p.D3030N	FAT3_ENST00000525166.1_Missense_Mutation_p.D2880N|FAT3_ENST00000409404.2_Missense_Mutation_p.D3030N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3030	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCAGTGTGTGATCAGGTGAG	0.423000										TCGA Ovarian(4;0.039)			152	40					0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052300	55052300	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:55052300C>T	ENST00000474759.1	+	35	2991	c.2943C>T	c.(2941-2943)acC>acT	p.T981T	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.T981T|CACNA2D3_ENST00000415676.2_Silent_p.T981T|CACNA2D3_ENST00000490478.1_Silent_p.T887T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	981						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTGAGCGCACCATCAAGGAGA	0.478000													8	20					0	0	0.006214	0	0
FAM64A	54478	broad.mit.edu	37	17	6350821	6350821	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:6350821G>A	ENST00000572447.1	+	3	442	c.333G>A	c.(331-333)ctG>ctA	p.L111L	FAM64A_ENST00000576056.1_Silent_p.L111L|FAM64A_ENST00000250056.8_Silent_p.L111L|FAM64A_ENST00000572595.2_Silent_p.L142L|FAM64A_ENST00000571373.1_Silent_p.L111L|FAM64A_ENST00000570337.2_Silent_p.L111L	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	111						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CCAAGTGGCTGGTGGAGACCC	0.587000													25	87					0	0	0.003954	0	0
DSG4	147409	broad.mit.edu	37	18	28970666	28970666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:28970666C>T	ENST00000359747.4	+	6	594	c.565C>T	c.(565-567)Cat>Tat	p.H189Y	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.H189Y	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	189	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGAAGAAAATCATCTGAATTC	0.408000													16	72					0	0	0.004990	0	0
ACSM5	54988	broad.mit.edu	37	16	20422911	20422911	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:20422911C>T	ENST00000331849.4	+	2	252	c.105C>T	c.(103-105)atC>atT	p.I35I	ACSM5_ENST00000575584.1_Silent_p.I35I	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	35					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTCAGAAGATCGTGGCCACCT	0.582000													20	29					0	0	0.001523	0	0
PARD3	56288	broad.mit.edu	37	10	34573111	34573111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:34573111G>A	ENST00000374789.3	-	21	3462	c.3137C>T	c.(3136-3138)tCc>tTc	p.S1046F	PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374790.3_Missense_Mutation_p.S986F|PARD3_ENST00000545693.1_Missense_Mutation_p.S1030F|PARD3_ENST00000350537.4_Missense_Mutation_p.S1000F|PARD3_ENST00000545260.1_Missense_Mutation_p.S956F|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000346874.4_Intron|PARD3_ENST00000374788.3_Missense_Mutation_p.S1043F	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1046					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.S1046F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGATGTAAAGGATTCCTGTAT	0.338000													39	16					0	0	0.006999	0	0
KIF5A	3798	broad.mit.edu	37	12	57962772	57962772	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:57962772C>T	ENST00000455537.2	+	9	1015	c.741C>T	c.(739-741)gcC>gcT	p.A247A	KIF5A_ENST00000286452.5_Silent_p.A158A	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	247	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAGAGGGAGCCGTGCTGGACG	0.562000													7	29					0	0	0.004482	0	0
UNC93A	54346	broad.mit.edu	37	6	167717489	167717489	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:167717489G>T	ENST00000230256.3	+	5	883	c.708G>T	c.(706-708)aaG>aaT	p.K236N	UNC93A_ENST00000366829.2_Missense_Mutation_p.K194N	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	236						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		aaggagagaagaaatcagtac	0.473000													19	35					1.67942e-08	1.97578e-08	0.006122	1	0
PCDH17	27253	broad.mit.edu	37	13	58208628	58208628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:58208628C>T	ENST00000377918.3	+	1	1974	c.1948C>T	c.(1948-1950)Cct>Tct	p.P650S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	650	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CACGCTGCACCCTTTCTGGGA	0.647000													59	105					0	0	0.003610	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133978234	133978234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:133978234G>A	ENST00000298622.4	+	20	2617	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGAACTGGAGGAAAAGGTAAA	0.433000													12	6					0	0	0.001368	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55038833	55038833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:55038833G>A	ENST00000474759.1	+	32	2782	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E912K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E912K|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E818K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	912						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGCCAACAAGGAAAGCAGCGA	0.458000													11	60					0	0	0.000978	0	0
MXRA5	25878	broad.mit.edu	37	X	3235770	3235770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chrX:3235770C>T	ENST00000217939.6	-	6	6106	c.5952G>A	c.(5950-5952)tgG>tgA	p.W1984*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1984	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGGGAAGATCCAGGAAATTT	0.582000													26	5					0	0	0.006320	0	0
BAGE2	85319	broad.mit.edu	37	21	11049620	11049620	+	RNA	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr21:11049620C>T	ENST00000470054.1	-	0	488									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)		CATCTTCCTTCGCTATAATTA	0.373000													14	114					0	0	0.006122	0	0
CD163	9332	broad.mit.edu	37	12	7635276	7635276	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:7635276G>A	ENST00000359156.4	-	14	3412	c.3210C>T	c.(3208-3210)ttC>ttT	p.F1070F	CD163_ENST00000432237.2_Silent_p.F1070F|CD163_ENST00000396620.3_Silent_p.F1103F|CD163_ENST00000541972.1_Silent_p.F1058F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1070					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTTTAGTCAAGAAGAATAATG	0.423000													61	88					0	0	0.003610	0	0
LPAR3	23566	broad.mit.edu	37	1	85331271	85331271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:85331271G>A	ENST00000440886.1	-	1	571	c.533C>T	c.(532-534)tCc>tTc	p.S178F	LPAR3_ENST00000370611.3_Missense_Mutation_p.S178F|LPAR3_ENST00000491034.1_Intron			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	178					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GGGGGCCAGGGAAGAGCAGGC	0.542000													46	33					0	0	0.002222	0	0
ZC3H18	124245	broad.mit.edu	37	16	88689692	88689692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:88689692C>T	ENST00000301011.5	+	10	1933	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	ZC3H18_ENST00000452588.2_Missense_Mutation_p.S602F	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	578	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGGTCTTCATCCTACAGCTCC	0.652000													35	12					0	0	0.002836	0	0
RECK	8434	broad.mit.edu	37	9	36102143	36102143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:36102143G>A	ENST00000377966.3	+	12	1917	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	451						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CAAATTCCCTGAAGACCACAC	0.373000													7	25					0	0	0.001984	0	0
C1R	715	broad.mit.edu	37	12	7242311	7242311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:7242311G>A	ENST00000542285.1	-	4	589	c.440C>T	c.(439-441)tCc>tTc	p.S147F				P00736	C1R_HUMAN	complement component 1, r subcomponent	148	EGF-like; calcium-binding (Potential).				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTTGCTCCGGGAAGCACATTC	0.557000													17	23					0	0	0.004990	0	0
ADAM29	11086	broad.mit.edu	37	4	175898197	175898197	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:175898197G>A	ENST00000359240.3	+	5	2191	c.1521G>A	c.(1519-1521)agG>agA	p.R507R	ADAM29_ENST00000445694.1_Silent_p.R507R|ADAM29_ENST00000404450.4_Silent_p.R507R|ADAM29_ENST00000514159.1_Silent_p.R507R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	507	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTGTAGGAGGATTTTTGGTG	0.448000													50	40					0	0	0.003610	0	0
GHRHR	2692	broad.mit.edu	37	7	31014610	31014610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:31014610C>T	ENST00000409316.1	+	6	573	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Silent_p.S279S|GHRHR_ENST00000409904.3_Silent_p.S215S			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	149					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ACGACACCTCCCCCTACTGGT	0.587000											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	95					0	0	0.002522	0	0
CARD11	84433	broad.mit.edu	37	7	2979485	2979485	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:2979485C>T	ENST00000396946.4	-	6	1165	c.762G>A	c.(760-762)aaG>aaA	p.K254K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	254					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAATGTCATTCTTCAGTTTTA	0.473000			Mis		DLBCL								92	77					0	0	0.003610	0	0
CCDC146	57639	broad.mit.edu	37	7	76889382	76889382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:76889382C>T	ENST00000285871.4	+	8	942	c.815C>T	c.(814-816)tCc>tTc	p.S272F	CCDC146_ENST00000431197.1_Missense_Mutation_p.S18F|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	272										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CTAAATGACTCCCTAAAGAAA	0.373000													61	44					0	0	0.003610	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955687	18955687	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:18955687G>A	ENST00000302797.3	-	1	869	c.645C>T	c.(643-645)taC>taT	p.Y215Y	MRGPRX1_ENST00000526914.1_Intron	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	215					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGATGGTCACGTACAGCCTGG	0.517000													17	55					0	0	0.004007	0	0
PDE7B	27115	broad.mit.edu	37	6	136476825	136476825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:136476825G>A	ENST00000308191.6	+	8	943	c.640G>A	c.(640-642)Gat>Aat	p.D214N	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	214	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AGCAGCACACGATGTGGACCA	0.488000													20	3					0	0	0.001882	0	0
KL	9365	broad.mit.edu	37	13	33629429	33629429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:33629429G>A	ENST00000380099.3	+	3	1584	c.1576G>A	c.(1576-1578)Gga>Aga	p.G526R	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.G219R	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	526	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTTTGCTTGGGGAGTTGTTGA	0.448000													31	59					0	0	0.001786	0	0
CRNKL1	51340	broad.mit.edu	37	20	20024146	20024146	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:20024146T>C	ENST00000377340.2	-	8	1476	c.1445A>G	c.(1444-1446)gAa>gGa	p.E482G	CRNKL1_ENST00000377327.4_Missense_Mutation_p.E470G|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E321G	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	482					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CTTCACTTCTTCTTCGTACTG	0.398000													58	77					0	0	0.003610	0	0
IL10RA	3587	broad.mit.edu	37	11	117869953	117869953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:117869953G>A	ENST00000227752.3	+	7	1454	c.1334G>A	c.(1333-1335)gGt>gAt	p.G445D	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Missense_Mutation_p.G296D|IL10RA_ENST00000541785.1_Missense_Mutation_p.G425D	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	445						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GCATTCCAGGGTTACCTGAGG	0.627000													31	16					0	0	0.001786	0	0
PHC1	1911	broad.mit.edu	37	12	9072355	9072355	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:9072355C>T	ENST00000543824.1	+	4	450	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Silent_p.L40L|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000433083.2_Intron			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	40					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TTCCTAGGCTCTGCAAGCACT	0.502000													17	24					0	0	0.002299	0	0
SCN10A	6336	broad.mit.edu	37	3	38739846	38739846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:38739846G>A	ENST00000449082.2	-	27	4864	c.4865C>T	c.(4864-4866)tCt>tTt	p.S1622F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1622					sensory perception	voltage-gated sodium channel complex		p.S1622F(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCGAAGATAGAGTAGATGAA	0.547000													34	84					0	0	0.003271	0	0
TRMT2A	27037	broad.mit.edu	37	22	20102127	20102127	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:20102127G>A	ENST00000252136.7	-	7	1591	c.1203C>T	c.(1201-1203)acC>acT	p.T401T	TRMT2A_ENST00000404751.3_Silent_p.T401T|TRMT2A_ENST00000439169.2_Silent_p.T401T|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000403707.3_Silent_p.T401T	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	401					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						AGATCCGGAAGGTCAGCCCTA	0.632000													49	100					0	0	0.003610	0	0
OR51A4	401666	broad.mit.edu	37	11	4967729	4967729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:4967729C>T	ENST00000380373.2	-	1	627	c.602G>A	c.(601-603)gGc>gAc	p.G201D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCAAAAAAGCCATAGATAAC	0.413000													7	54					0	0	0.001855	0	0
WIPI1	55062	broad.mit.edu	37	17	66447029	66447029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:66447029G>A	ENST00000262139.5	-	3	172	c.173C>T	c.(172-174)cCg>cTg	p.P58L	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	58					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GTAGACGTCCGGGATTTCATC	0.557000													21	46					0	0	0.001523	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869219	31869219	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr21:31869219C>T	ENST00000334058.2	-	1	232	c.210G>A	c.(208-210)acG>acA	p.T70T		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	70						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTCTGATATCGTGTCCTCAG	0.408000													69	22					0	0	0.003610	0	0
FAT2	2196	broad.mit.edu	37	5	150922725	150922725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:150922725G>A	ENST00000261800.5	-	9	7975	c.7963C>T	c.(7963-7965)Cag>Tag	p.Q2655*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2655	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAAGGGTCTGATTTTCCAAT	0.473000													38	31					0	0	0.006230	0	0
MBD5	55777	broad.mit.edu	37	2	149221446	149221446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:149221446C>T	ENST00000407073.1	+	8	1352	c.355C>T	c.(355-357)Cca>Tca	p.P119S	MBD5_ENST00000404807.1_Missense_Mutation_p.P119S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	119						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CATGGAAGCCCCACATCCTTC	0.443000													29	32					0	0	0.002445	0	0
TRIML1	339976	broad.mit.edu	37	4	189061057	189061057	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:189061057C>T	ENST00000332517.3	+	1	485	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	115					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAAGCGCCTTCGTAGCCCAGA	0.612000													10	23					0	0	0.008291	0	0
REN	5972	broad.mit.edu	37	1	204129781	204129781	+	Silent	SNP	C	C	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:204129781C>G	ENST00000367195.2	-	4	442	c.399G>C	c.(397-399)tcG>tcC	p.S133S	REN_ENST00000272190.8_Silent_p.S133S			P00797	RENI_HUMAN	renin	133					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TGGAGGAATCCGAAGCATCGA	0.542000													22	69					0	0	0.005443	0	0
RGPD3	653489	broad.mit.edu	37	2	107041611	107041611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:107041611C>T	ENST00000409886.3	-	20	2899	c.2812G>A	c.(2812-2814)Gaa>Aaa	p.E938K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E938K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	938					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AGAGGCTTTTCACTTTTCTTT	0.408000													62	178					0	0	0.003610	0	0
IGHV3-11	28450	broad.mit.edu	37	14	106573654	106573654	+	RNA	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:106573654G>A	ENST00000390601.2	-	0	146																											TAGCAACAAGGAAAACCCAGC	0.468000													30	65					0	0	0.002836	0	0
EHMT2	10919	broad.mit.edu	37	6	31855893	31855893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:31855893G>A	ENST00000395728.3	-	12	1840	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.P580L|EHMT2_ENST00000375530.4_Missense_Mutation_p.P523L|EHMT2_ENST00000375537.4_Missense_Mutation_p.P557L			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	557					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGTGCCGGCCGGTGGGGTCAC	0.642000													131	149					0	0	0.003610	0	0
ADAM29	11086	broad.mit.edu	37	4	175898960	175898960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:175898960C>T	ENST00000359240.3	+	5	2954	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	ADAM29_ENST00000445694.1_Missense_Mutation_p.P762S|ADAM29_ENST00000404450.4_Missense_Mutation_p.P762S|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.P762S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	762	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GAGTCAACCTCCTGTGACACC	0.572000													28	86					0	0	0.001786	0	0
AC096579.13	0	broad.mit.edu	37	2	89156800	89156800	+	RNA	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:89156800G>A	ENST00000452230.1	-	0	39				IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA																							GTCCCCTGTGGAAAAAGGGTC	0.547000													4	11					0	0	0.000248	0	0
MDN1	23195	broad.mit.edu	37	6	90405637	90405637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:90405637G>A	ENST00000369393.3	-	61	9573	c.9458C>T	c.(9457-9459)tCc>tTc	p.S3153F	MDN1_ENST00000428876.1_Missense_Mutation_p.S3153F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3153					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGCCGCCGGGACTCTGGGAG	0.617000													52	79					0	0	0.003610	0	0
SLC25A36	55186	broad.mit.edu	37	3	140695203	140695203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:140695203C>T	ENST00000446041.2	+	7	1066	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	SLC25A36_ENST00000453248.2_Missense_Mutation_p.R256C|SLC25A36_ENST00000324194.6_Missense_Mutation_p.R282C	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	282					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTCTCTTTATCGTGGTCTGAC	0.403000													12	37					0	0	0.000978	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626859	108626859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:108626859G>A	ENST00000264047.2	+	9	1561	c.1285G>A	c.(1285-1287)Gga>Aga	p.G429R	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G324R|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G429R	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	429					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTTTGTTAAGGGAACCAACAC	0.488000													15	49					0	0	0.002450	0	0
HYDIN	54768	broad.mit.edu	37	16	71025993	71025993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:71025993C>T	ENST00000393567.2	-	24	3915	c.3765G>A	c.(3763-3765)atG>atA	p.M1255I	HYDIN_ENST00000448089.2_Missense_Mutation_p.M1207I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1255										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CATTTAAATCCATCTCGGGGG	0.453000													4	31					0	0	0.001168	0	0
NR1H4	9971	broad.mit.edu	37	12	100928794	100928794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:100928794C>T	ENST00000548884.1	+	6	1254	c.713C>T	c.(712-714)tCa>tTa	p.S238L	NR1H4_ENST00000392986.3_Missense_Mutation_p.S242L|NR1H4_ENST00000188403.7_Missense_Mutation_p.S248L|NR1H4_ENST00000551379.1_Missense_Mutation_p.S252L|NR1H4_ENST00000549996.1_Missense_Mutation_p.S191L	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	252					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						ACAACAAAGTCATGCAGGGTA	0.463000													28	18					0	0	0.002096	0	0
THBS3	7059	broad.mit.edu	37	1	155172680	155172680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:155172680C>T	ENST00000368378.3	-	8	900	c.880G>A	c.(880-882)Gag>Aag	p.E294K	THBS3_ENST00000428962.2_Missense_Mutation_p.E144K|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.E174K|THBS3_ENST00000541990.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	294	EGF-like 1.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGGGTACTCGTACACTTCC	0.627000													33	54					0	0	0.001786	0	0
FNDC1	84624	broad.mit.edu	37	6	159653194	159653194	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:159653194G>A	ENST00000297267.9	+	11	1850	c.1650G>A	c.(1648-1650)gaG>gaA	p.E550E	FNDC1_ENST00000340366.6_Silent_p.E487E	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	550						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTTCCCGGGAGGACTCGCCCA	0.637000													12	2					0	0	0.003163	0	0
ZBP1	81030	broad.mit.edu	37	20	56186787	56186787	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:56186787G>A	ENST00000340462.4	-	5	1081	c.801C>T	c.(799-801)ccC>ccT	p.P267P	ZBP1_ENST00000343535.4_Silent_p.P290P|ZBP1_ENST00000395822.3_Silent_p.P215P|ZBP1_ENST00000371173.3_Silent_p.P290P			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	290						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AGTTACCTGGGGGGCTGCCAG	0.612000													21	16					0	0	0.002780	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	RNA	SNP	T	T	C	rs139643347	by1000genomes	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:141070111T>C	ENST00000503395.1	+	0	1191																		p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697000													4	64					0	0	0.001984	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030446	10030446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:10030446C>T	ENST00000378380.3	+	6	1558	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	ANKEF1_ENST00000378392.1_Missense_Mutation_p.S410L|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GTCTTAGGATCGTATGGACCT	0.408000													34	58					0	0	0.003755	0	0
FGF21	26291	broad.mit.edu	37	19	49259616	49259616	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:49259616G>A	ENST00000593756.1	+	2	695	c.123G>A	c.(121-123)ggG>ggA	p.G41G	FGF21_ENST00000222157.3_Silent_p.G41G			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	41					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TGCAATTCGGGGGCCAAGTCC	0.632000													12	27					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9061785	9061785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:9061785G>A	ENST00000397910.4	-	3	25864	c.25661C>T	c.(25660-25662)tCt>tTt	p.S8554F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8556	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						TTCTTCCACAGAGGGAAGGCT	0.507000													10	19					0	0	0.006214	0	0
MYO15A	51168	broad.mit.edu	37	17	18060493	18060493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:18060493C>T	ENST00000205890.5	+	50	9075	c.8737C>T	c.(8737-8739)Cgc>Tgc	p.R2913C	MYO15A_ENST00000418233.3_Missense_Mutation_p.R177C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2913	SH3.|Tail.				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)					CTGCGTGGTTCGCAGGAAGGT	0.662000													7	7					0	0	0.003080	0	0
ADAM32	203102	broad.mit.edu	37	8	39091417	39091417	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:39091417G>A	ENST00000379907.4	+	16	1761		c.e16-1		ADAM32_ENST00000437682.2_Splice_Site|ADAM32_ENST00000519315.1_Splice_Site	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32						proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TATGTTTTCAGGAATCTTATA	0.313000													3	7					0	0	0.004672	0	0
PTPRB	5787	broad.mit.edu	37	12	70928359	70928359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:70928359C>T	ENST00000334414.6	-	31	6321	c.6277G>A	c.(6277-6279)Gaa>Aaa	p.E2093K	RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.E2005K|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1785K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1785K|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1875K|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1785K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1875					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGGGTGGTTTCTGGGACTCCA	0.532000													10	11					0	0	0.001368	0	0
SLFN11	91607	broad.mit.edu	37	17	33690205	33690205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:33690205G>A	ENST00000394566.1	-	4	894	c.622C>T	c.(622-624)Cct>Tct	p.P208S	SLFN11_ENST00000308377.4_Missense_Mutation_p.P208S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	208						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGAGACTCAGGAAAAGGCAGG	0.413000													28	61					0	0	0.006320	0	0
OR4D2	124538	broad.mit.edu	37	17	56247483	56247483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:56247483C>T	ENST00000545221.1	+	1	467	c.467C>T	c.(466-468)tCt>tTt	p.S156F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TTTGTCCACTCTATTGTCCAG	0.567000													45	125					0	0	0.002522	0	0
ATXN1	6310	broad.mit.edu	37	6	16327065	16327065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:16327065G>A	ENST00000244769.4	-	8	2413	c.1477C>T	c.(1477-1479)Ccg>Tcg	p.P493S	ATXN1_ENST00000436367.1_Missense_Mutation_p.P493S	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	493					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)				CTGCCGACCGGGATGAGCAGG	0.667000													92	123					0	0	0.003610	0	0
NES	10763	broad.mit.edu	37	1	156641395	156641395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:156641395G>A	ENST00000368223.3	-	4	2717	c.2585C>T	c.(2584-2586)cCt>cTt	p.P862L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	862	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780).	brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTTTCTAGAGGATTCATTGC	0.453000													78	72					0	0	0.003610	0	0
FOLH1	2346	broad.mit.edu	37	11	49214396	49214396	+	Silent	SNP	A	A	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:49214396A>T	ENST00000340334.7	-	5	785	c.417T>A	c.(415-417)gtT>gtA	p.V139V	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000256999.2_Silent_p.V154V|FOLH1_ENST00000533034.1_Silent_p.V139V|FOLH1_ENST00000356696.3_Silent_p.V154V	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	154					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CAATATCCGAAACATTTTCAT	0.328000													65	118					0	0	0.003610	0	0
AGXT	189	broad.mit.edu	37	2	241808382	241808382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:241808382C>T	ENST00000307503.3	+	1	487	c.100C>T	c.(100-102)Cct>Tct	p.P34S		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	34					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TTCCAACCTGCCTCCTCGCAT	0.652000													20	40					0	0	0.004656	0	0
IFNA21	3452	broad.mit.edu	37	9	21166467	21166467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:21166467G>A	ENST00000380225.1	-	1	192	c.145C>T	c.(145-147)Cct>Tct	p.P49S		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	49					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAGGAGAAAGGAGAGATTCTT	0.517000													78	22					0	0	0.003610	0	0
BCO2	83875	broad.mit.edu	37	11	112088573	112088573	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:112088573C>T	ENST00000357685.5	+	12	1851	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	BCO2_ENST00000361053.4_Silent_p.F499F|BCO2_ENST00000438022.1_Silent_p.F538F|BCO2_ENST00000393032.2_Silent_p.F538F|BCO2_ENST00000531169.1_Silent_p.F538F|BCO2_ENST00000526088.1_Silent_p.F532F|BCO2_ENST00000532593.1_Silent_p.F467F			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	572					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CTTATGGGTTCCATGGTACCT	0.423000													26	5					0	0	0.006320	0	0
TRPV2	51393	broad.mit.edu	37	17	16330068	16330068	+	Silent	SNP	G	G	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:16330068G>T	ENST00000338560.7	+	7	1527	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	376	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGGAGCCCCTGAACAAACTGC	0.517000													25	27					3.28513e-13	3.88116e-13	0.003954	1	0
PLA2G3	50487	broad.mit.edu	37	22	31532705	31532705	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:31532705T>G	ENST00000215885.3	-	6	1532	c.1280A>C	c.(1279-1281)aAg>aCg	p.K427T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	427					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						AGGGGCCAGCTTGAAGCAGGT	0.577000													84	106					0	0	0.003610	0	0
CYP2R1	120227	broad.mit.edu	37	11	14901713	14901713	+	Silent	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:14901713A>G	ENST00000532378.1	-	4	1124	c.270T>C	c.(268-270)atT>atC	p.I90I	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000334636.5_Silent_p.I323I			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	323					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CCATGAAAAGAATCGCCCACC	0.408000													19	26					0	0	0.008871	0	0
BSN	8927	broad.mit.edu	37	3	49662608	49662608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:49662608C>T	ENST00000296452.4	+	2	539	c.425C>T	c.(424-426)cCc>cTc	p.P142L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	142					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.P142L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGCGGTCCCCCTCAGTGTCA	0.647000													30	15					0	0	0.008361	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893853	32893853	+	RNA	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:32893853C>T	ENST00000330048.5	-	0	1404					NR_003083.2																						TGGACTCACTCCCAGAACTCG	0.617000													25	95					0	0	0.006999	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763759	77763759	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:77763759C>T	ENST00000521891.2	+	10	5050	c.4602C>T	c.(4600-4602)ttC>ttT	p.F1534F	ZFHX4_ENST00000455469.2_Silent_p.F1489F|ZFHX4_ENST00000518282.1_Silent_p.F1508F|ZFHX4_ENST00000050961.6_Silent_p.F1489F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1489						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGAAAAATTCCTTGATCCAT	0.398000										HNSCC(33;0.089)			9	36					0	0	0.000978	0	0
NEB	4703	broad.mit.edu	37	2	152484039	152484039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:152484039C>T	ENST00000397345.3	-	69	10343	c.10141G>A	c.(10141-10143)Gat>Aat	p.D3381N	NEB_ENST00000409198.1_Missense_Mutation_p.D3138N|NEB_ENST00000427231.2_Missense_Mutation_p.D3381N|NEB_ENST00000603639.1_Missense_Mutation_p.D3381N|NEB_ENST00000604864.1_Missense_Mutation_p.D3381N|NEB_ENST00000172853.10_Missense_Mutation_p.D3138N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3381					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTACTCACATCGCTCTGGAGG	0.473000													41	120					0	0	0.002222	0	0
LUM	4060	broad.mit.edu	37	12	91502014	91502014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:91502014C>T	ENST00000266718.4	-	2	1197	c.743G>A	c.(742-744)gGa>gAa	p.G248E	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	248					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GAAAGAATTTCCAGGTATTCC	0.383000													39	45					0	0	0.007835	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018580	161018580	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:161018580T>C	ENST00000368013.3	-	12	2551	c.2231A>G	c.(2230-2232)gAt>gGt	p.D744G	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.D567G|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	744	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTCCTTCTCATCTGTATACTC	0.488000													52	204					0	0	0.003610	0	0
EPHA4	2043	broad.mit.edu	37	2	222347196	222347196	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:222347196G>A	ENST00000281821.2	-	5	1235	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	EPHA4_ENST00000392071.4_Silent_p.V347V|EPHA4_ENST00000409938.1_Silent_p.V398V|EPHA4_ENST00000409854.1_Silent_p.V398V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	398	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGTGATGGAGACTTTGGTGG	0.498000													153	144					0	0	0.003610	0	0
TMEM2	23670	broad.mit.edu	37	9	74349793	74349793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:74349793G>A	ENST00000377044.4	-	6	1861	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	TMEM2_ENST00000377066.5_Intron	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	441						integral to membrane		p.S441F(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TTGGTACATGGAATAGTCTGT	0.438000													54	16					0	0	0.003610	0	0
ATP13A2	23400	broad.mit.edu	37	1	17318891	17318891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:17318891G>A	ENST00000452699.1	-	18	2026	c.1837C>T	c.(1837-1839)Ccc>Tcc	p.P613S	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.P613S|ATP13A2_ENST00000326735.8_Missense_Mutation_p.P618S	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	618					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(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCACCGGGGGCTCCTCCTGC	0.692000													22	25					0	0	0.001882	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156464	70156464	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:70156464G>A	ENST00000335568.5	+	5	1247	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	415					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTGTTAGACTGGACTTCCACA	0.438000													64	85					0	0	0.003610	0	0
SERPINB3	6317	broad.mit.edu	37	18	61326686	61326686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr18:61326686C>T	ENST00000283752.5	-	4	441	c.298G>A	c.(298-300)Gag>Aag	p.E100K	SERPINB3_ENST00000332821.8_Missense_Mutation_p.E100K|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	100					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATCTTCAGCTCATATGCATCA	0.393000													36	49					0	0	0.006999	0	0
TCHH	7062	broad.mit.edu	37	1	152085190	152085190	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:152085190C>G	ENST00000368804.1	-	2	502	c.503G>C	c.(502-504)cGc>cCc	p.R168P		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	168					keratinization	cytoskeleton	calcium ion binding	p.R168H(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCGTCGCGGCGCTGCCTGTC	0.587000													38	198					0	0	0.002522	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801739	185801739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:185801739G>A	ENST00000302277.6	+	4	2210	c.1616G>A	c.(1615-1617)gGa>gAa	p.G539E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	539						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTGATTCTGGAAAAAATGAG	0.343000													11	30					0	0	0.008291	0	0
FNDC3B	64778	broad.mit.edu	37	3	172046830	172046830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:172046830C>T	ENST00000336824.4	+	12	1442	c.1343C>T	c.(1342-1344)aCa>aTa	p.T448I	FNDC3B_ENST00000416957.1_Missense_Mutation_p.T448I|FNDC3B_ENST00000415807.2_Missense_Mutation_p.T448I	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	448	Fibronectin type-III 2.			T -> A (in Ref. 3; BAG37083).		endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ATGGGGTACACATTCAGGCTG	0.483000													28	102					0	0	0.007291	0	0
PCK1	5105	broad.mit.edu	37	20	56140810	56140810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:56140810G>A	ENST00000319441.4	+	10	1983	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	PCK1_ENST00000543666.1_Missense_Mutation_p.E290K	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	607					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTCCCCTGTGAAATCGAGAG	0.458000													22	21					0	0	0.003330	0	0
AFF4	27125	broad.mit.edu	37	5	132234065	132234065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:132234065G>A	ENST00000265343.5	-	10	1625	c.1246C>T	c.(1246-1248)Cat>Tat	p.H416Y	AFF4_ENST00000378595.3_Missense_Mutation_p.H416Y	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	416	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCACTATTATGGTGTGAAGGT	0.388000													27	21					0	0	0.005443	0	0
LARP4	113251	broad.mit.edu	37	12	50854978	50854978	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:50854978C>T	ENST00000398473.2	+	11	1294	c.1182C>T	c.(1180-1182)tcC>tcT	p.S394S	LARP4_ENST00000429001.3_Silent_p.S400S|LARP4_ENST00000293618.8_Intron|LARP4_ENST00000518444.1_Silent_p.S393S|LARP4_ENST00000347328.5_Silent_p.S323S|LARP4_ENST00000522085.1_Silent_p.S394S|LARP4_ENST00000518561.1_Silent_p.S324S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	394							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GCTCTGTATCCTTGGGGGATG	0.433000													52	81					0	0	0.003610	0	0
REXO1	57455	broad.mit.edu	37	19	1818750	1818750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:1818750C>T	ENST00000170168.4	-	9	2951	c.2857G>A	c.(2857-2859)Ggg>Agg	p.G953R		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	953						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		ATTGCGCCCCCGGGCCGCTCT	0.667000													7	24					0	0	0.001984	0	0
AGXT2	64902	broad.mit.edu	37	5	35026524	35026524	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:35026524T>G	ENST00000231420.6	-	8	1061	c.861A>C	c.(859-861)gaA>gaC	p.E287D		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	287					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CTTGAATAGGTTCTGCGAAAA	0.358000													9	30					0	0	0.001368	0	0
SPTB	6710	broad.mit.edu	37	14	65252634	65252634	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:65252634G>A	ENST00000389722.3	-	16	3650	c.3597C>T	c.(3595-3597)tcC>tcT	p.S1199S	SPTB_ENST00000542895.1_Silent_p.S1199S|SPTB_ENST00000389720.3_Silent_p.S1199S|SPTB_ENST00000389721.5_Silent_p.S1199S|SPTB_ENST00000556626.1_Silent_p.S1199S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1199					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGCTTCCAGGGAGTCTGGGG	0.532000													78	66					0	0	0.003610	0	0
LRTM1	57408	broad.mit.edu	37	3	54959009	54959009	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:54959009A>C	ENST00000273286.5	-	2	403	c.241T>G	c.(241-243)Ttg>Gtg	p.L81V	CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.L5V|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	81						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TTGTTGGACAAGTTTAAGGTC	0.448000													13	34					0	0	0.001855	0	0
ABCA4	24	broad.mit.edu	37	1	94474331	94474331	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:94474331G>A	ENST00000370225.3	-	41	5897	c.5811C>T	c.(5809-5811)atC>atT	p.I1937I	ABCA4_ENST00000536513.1_Silent_p.I207I|ABCA4_ENST00000535881.1_Silent_p.I56I|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1937					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTAGCCTTAAGATGTCAGTTT	0.423000													26	91					0	0	0.007291	0	0
CDCA2	157313	broad.mit.edu	37	8	25364185	25364185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:25364185C>T	ENST00000330560.3	+	15	2480	c.2003C>T	c.(2002-2004)tCg>tTg	p.S668L	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.S653L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	668					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGTTCCTCATCGCTTGGCAAT	0.313000													9	52					0	0	0.006214	0	0
EXPH5	23086	broad.mit.edu	37	11	108412425	108412425	+	Silent	SNP	T	T	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:108412425T>C	ENST00000265843.4	-	2	344	c.234A>G	c.(232-234)ttA>ttG	p.L78L	EXPH5_ENST00000428840.1_Silent_p.L2L|EXPH5_ENST00000525344.1_Silent_p.L71L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	78					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)		GTGGTTGTTTTAACATTTGGC	0.338000													37	10					0	0	0.007835	0	0
PXDC1	221749	broad.mit.edu	37	6	3727859	3727859	+	Silent	SNP	G	G	A	rs138093421	byFrequency	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:3727859G>A	ENST00000380283.4	-	4	998	c.504C>T	c.(502-504)acC>acT	p.T168T	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	CF145_HUMAN	PX domain containing 1	168					cell communication		phosphatidylinositol binding	p.T168T(1)									CTATTGTTTCGGTATTTGCTA	0.433000													28	43					0	0	0.002445	0	0
TIGIT	201633	broad.mit.edu	37	3	114014634	114014634	+	Missense_Mutation	SNP	G	G	A	rs146935299	by1000genomes	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:114014634G>A	ENST00000481065.1	+	3	3120	c.505G>A	c.(505-507)Gat>Aat	p.D169N	TIGIT_ENST00000383671.3_Missense_Mutation_p.D102N|TIGIT_ENST00000486257.1_Missense_Mutation_p.D102N			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	102					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	p.D102N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GACCGTGAACGATACAGGGGA	0.567000													26	26					0	0	0.004656	0	0
ZNF677	342926	broad.mit.edu	37	19	53747073	53747073	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:53747073G>A	ENST00000333952.4	-	4	258	c.93C>T	c.(91-93)gcC>gcT	p.A31A	ZNF677_ENST00000598513.1_Silent_p.A31A|ZNF677_ENST00000601413.1_Silent_p.A31A|ZNF677_ENST00000594681.1_Silent_p.A31A|ZNF677_ENST00000601828.1_Silent_p.A31A|ZNF677_ENST00000599012.1_Silent_p.A31A|ZNF677_ENST00000598806.1_Silent_p.A31A			Q86XU0	ZN677_HUMAN	zinc finger protein 677	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CCCTGTACAAGGCCCTCTGGG	0.483000													38	23					0	0	0.004878	0	0
KALRN	8997	broad.mit.edu	37	3	124414982	124414982	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:124414982G>A	ENST00000360013.3	+	54	7706	c.7577_splice	c.e54-1	p.D2527_splice	KALRN_ENST00000291478.4_Splice_Site_p.D830_splice|KALRN_ENST00000428018.2_Splice_Site_p.D798_splice	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2526	Ig-like C2-type.				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						TGTCCCTAGTGATTCTGGAGA	0.483000													45	112					0	0	0.003610	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654486	49654486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:49654486G>A	ENST00000249601.4	-	10	2341	c.2045C>T	c.(2044-2046)tCg>tTg	p.S682L	ARHGAP22_ENST00000374170.1_Missense_Mutation_p.S523L|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.S688L|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.S698L|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.S573L|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.S515L|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.S592L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	682					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTAGGGTCGAAAAAAACTC	0.542000													44	18					0	0	0.003610	0	0
CCDC101	112869	broad.mit.edu	37	16	28592445	28592445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:28592445C>T	ENST00000317058.3	+	2	242	c.55C>T	c.(55-57)Cag>Tag	p.Q19*		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	19					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						AGAGCTCCATCAGCTGATCAA	0.547000													14	18					0	0	0.004007	0	0
OR1C1	26188	broad.mit.edu	37	1	247921397	247921397	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:247921397G>A	ENST00000408896.2	-	1	585	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAAAAGAAACGAAGAAGAAGA	0.473000													36	21					0	0	0.004878	0	0
NEU3	10825	broad.mit.edu	37	11	74716559	74716559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:74716559C>T	ENST00000532963.1	+	2	323	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F	NEU3_ENST00000531509.1_Silent_p.F136F|NEU3_ENST00000529024.1_Missense_Mutation_p.L66F|NEU3_ENST00000544263.1_Silent_p.F103F|NEU3_ENST00000294064.4_Silent_p.F136F|NEU3_ENST00000545272.1_Silent_p.F27F			A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	0										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						TGTTCCTGTTCTTCATCTGTG	0.562000													34	26					0	0	0.002445	0	0
LOC100130700	100130700	broad.mit.edu	37	16	34739689	34739689	+	RNA	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:34739689G>A	ENST00000562591.1	-	0	233					NR_034019.1																						ATGTCCCACGGAGATTCTGCT	0.388000													13	7					0	0	0.001368	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739163	91739163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:91739163C>T	ENST00000389857.6	-	30	5979	c.5893G>A	c.(5893-5895)Gga>Aga	p.G1965R	CCDC88C_ENST00000331194.7_Missense_Mutation_p.G489R	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1965					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACCCCGTCTCCCTCTGAGAGG	0.726000													11	14					0	0	0.001368	0	0
HECW2	57520	broad.mit.edu	37	2	197183308	197183308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:197183308C>T	ENST00000260983.2	-	9	2488	c.2306G>A	c.(2305-2307)gGg>gAg	p.G769E	HECW2_ENST00000409111.1_Missense_Mutation_p.G413E	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	769	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGCAGTTGCCCCTTCACAGGT	0.622000													27	27					0	0	0.008361	0	0
OR9G4	283189	broad.mit.edu	37	11	56510788	56510788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:56510788C>T	ENST00000302957.3	-	1	499	c.500G>A	c.(499-501)gGa>gAa	p.G167E		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATTCAAAAATCCTCCTATGTA	0.453000													48	59					0	0	0.003610	0	0
XPO4	64328	broad.mit.edu	37	13	21362747	21362747	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:21362747G>A	ENST00000400602.2	-	20	2960	c.2925C>T	c.(2923-2925)acC>acT	p.T975T	XPO4_ENST00000255305.6_Silent_p.T975T	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	975					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GATTACAAAGGGTTGGAAACT	0.299000													20	87					0	0	0.002780	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067514	11067514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:11067514C>T	ENST00000287766.4	+	9	1326	c.905C>T	c.(904-906)tCc>tTc	p.S302F	SLC6A1_ENST00000536032.1_Missense_Mutation_p.S124F	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	302					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GGCCTGGGGTCCCTGATCGCT	0.537000													22	77					0	0	0.003330	0	0
OR4K5	79317	broad.mit.edu	37	14	20389033	20389033	+	Missense_Mutation	SNP	G	G	A	rs151215030		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr14:20389033G>A	ENST00000315915.4	+	1	293	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGTGCACACGAGACCATATC	0.428000													54	134					0	0	0.003610	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761086	121761086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:121761086G>A	ENST00000261367.7	+	7	2611	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000504884.2_Missense_Mutation_p.R57Q|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E348K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E395K			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	348					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATTCACGACGAAAATGGAAA	0.438000													53	68					0	0	0.003610	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039580	55039580	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:55039580C>T	ENST00000370862.3	+	1	531	c.195C>T	c.(193-195)ttC>ttT	p.F65F		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	65					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.F65F(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCATCGTGTTCGTCGTGGCTC	0.597000													41	40					0	0	0.002852	0	0
XKR6	286046	broad.mit.edu	37	8	10756182	10756182	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:10756182G>A	ENST00000416569.2	-	3	1232	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	XKR6_ENST00000304437.2_Silent_p.I123I	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	402						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TTCCGCCATGGATGATCCAGA	0.502000													22	27					0	0	0.002780	0	0
C11orf58	10944	broad.mit.edu	37	11	16774376	16774376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:16774376C>T	ENST00000228136.4	+	4	631	c.253C>T	c.(253-255)Cag>Tag	p.Q85*	C11orf58_ENST00000525684.1_Silent_p.I64I|C11orf58_ENST00000422258.2_Nonsense_Mutation_p.Q41*			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	85										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						GTCTCAATATCAGCAAAGTAT	0.338000													10	32					0	0	0.000978	0	0
LPHN2	23266	broad.mit.edu	37	1	82408712	82408712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:82408712G>A	ENST00000370728.1	+	8	1102	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	LPHN2_ENST00000370727.1_Missense_Mutation_p.E153K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E153K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.E153K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E153K|LPHN2_ENST00000370721.1_Missense_Mutation_p.E157K|LPHN2_ENST00000370730.1_Missense_Mutation_p.E153K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E153K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E153K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E153K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E153K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E153K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E153K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E153K			O95490	LPHN2_HUMAN	latrophilin 2	153	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATATGAAGCTGAACAAAAGGC	0.403000													40	46					0	0	0.007835	0	0
OR2T2	401992	broad.mit.edu	37	1	248616137	248616137	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:248616137C>T	ENST00000342927.3	+	1	61	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACTAACTTCGTCCTCACAG	0.507000													33	216					0	0	0.003610	0	0
WDFY3	23001	broad.mit.edu	37	4	85594125	85594125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:85594125C>T	ENST00000322366.6	-	67	10833	c.10426G>A	c.(10426-10428)Gaa>Aaa	p.E3476K	WDFY3_ENST00000295888.4_Missense_Mutation_p.E3493K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3493						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CGTTTGATTTCAGATTGAAAG	0.408000													33	45					0	0	0.003271	0	0
PLCB4	5332	broad.mit.edu	37	20	9449315	9449315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:9449315G>A	ENST00000378501.2	+	32	3325	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	PLCB4_ENST00000278655.4_Missense_Mutation_p.E1104K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1116K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1104K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E1104K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1116K|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1104					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGCAGAACGGGAAAGGTAAGT	0.418000													32	40					0	0	0.001786	0	0
PTPN14	5784	broad.mit.edu	37	1	214567112	214567112	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:214567112G>A	ENST00000366956.5	-	10	1049	c.855C>T	c.(853-855)atC>atT	p.I285I	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	285	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGCATTTTCGATATCATCCT	0.353000													24	19					0	0	0.004656	0	0
FAM83D	81610	broad.mit.edu	37	20	37580266	37580266	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:37580266C>T	ENST00000217429.4	+	4	992	c.951C>T	c.(949-951)ttC>ttT	p.F317F		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	287					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATCTGGAGTTCCGAATCCTGT	0.448000													24	55					0	0	0.002780	0	0
KIAA1217	56243	broad.mit.edu	37	10	24816916	24816916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr10:24816916G>A	ENST00000376451.2	+	9	2259	c.1999G>A	c.(1999-2001)Ggg>Agg	p.G667R	KIAA1217_ENST00000376462.1_Missense_Mutation_p.G904R|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G949R|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G667R|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G984R|KIAA1217_ENST00000307544.6_Missense_Mutation_p.G667R|KIAA1217_ENST00000396446.1_Missense_Mutation_p.G667R|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G949R			Q5T5P2	SKT_HUMAN	KIAA1217	984					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCACTATAATGGGAAAGAGTT	0.458000													60	16					0	0	0.003610	0	0
CELP	1057	broad.mit.edu	37	9	135962419	135962419	+	RNA	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:135962419C>T	ENST00000411440.2	+	0	926					NR_001275.2																						ACAGGCAACTCCGAGTCTGCC	0.657000													23	8					0	0	0.001882	0	0
KCNH2	3757	broad.mit.edu	37	7	150656679	150656679	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:150656679G>A	ENST00000392968.2	-	1	1285	c.165C>T	c.(163-165)ccC>ccT	p.P55P	KCNH2_ENST00000430723.3_Silent_p.P151P|KCNH2_ENST00000262186.5_Silent_p.P151P			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	151	PAS.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.T152fs*180(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCCAGCTGGTGGGGGGGCCCC	0.587000													14	70					0	0	0.004007	0	0
CA12	771	broad.mit.edu	37	15	63631051	63631051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:63631051C>T	ENST00000178638.3	-	8	1281	c.841G>A	c.(841-843)Gat>Aat	p.D281N	CA12_ENST00000422263.2_Missense_Mutation_p.D221N|CA12_ENST00000344366.3_Missense_Mutation_p.D281N	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	281					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	AGCCTCTCATCGAACTTCTGG	0.577000													16	39					0	0	0.006122	0	0
DNAH9	1770	broad.mit.edu	37	17	11687643	11687643	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:11687643C>T	ENST00000262442.3	+	41	7916	c.7848C>T	c.(7846-7848)tcC>tcT	p.S2616S	DNAH9_ENST00000454412.2_Silent_p.S2616S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2616	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGTCCTCTCCTTCCCGGGGG	0.532000													91	110					0	0	0.003610	0	0
PREX1	57580	broad.mit.edu	37	20	47258999	47258999	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:47258999G>A	ENST00000396220.1	-	28	3652	c.3630C>T	c.(3628-3630)atC>atT	p.I1210I	PREX1_ENST00000371941.3_Silent_p.I1210I|PREX1_ENST00000496915.1_5'UTR			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1210					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGTCAGATGGGATCCGCATGT	0.567000													20	35					0	0	0.003330	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	85					0	0	0.000602	0	0
A2M	2	broad.mit.edu	37	12	9266120	9266120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:9266120G>A	ENST00000318602.7	-	2	413	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	36					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGCAGGGAGGGGACCAGAACC	0.493000													14	96					0	0	0.002450	0	0
CAMTA2	23125	broad.mit.edu	37	17	4885044	4885044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:4885044G>A	ENST00000361571.5	-	6	902	c.491C>T	c.(490-492)tCc>tTc	p.S164F	CAMTA2_ENST00000571831.1_5'UTR|CAMTA2_ENST00000348066.3_Missense_Mutation_p.S165F|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S165F|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S170F|CAMTA2_ENST00000414043.3_Missense_Mutation_p.S188F|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S167F	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	165					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCTGCTGATGGAACAAAAGAT	0.582000													12	43					0	0	0.001855	0	0
GPR124	25960	broad.mit.edu	37	8	37697721	37697721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:37697721C>T	ENST00000315215.7	+	14	2306	c.1943C>T	c.(1942-1944)aCc>aTc	p.T648I	GPR124_ENST00000412232.2_Missense_Mutation_p.T865I			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	865					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AAGGAGCTCACCTGGAGGGCA	0.612000													27	30					0	0	0.004656	0	0
GJB3	2707	broad.mit.edu	37	1	35250783	35250783	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:35250783C>T	ENST00000373366.2	+	2	1035	c.420C>T	c.(418-420)atC>atT	p.I140I	GJB3_ENST00000373362.3_Silent_p.I140I|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	140					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCAAGCTCATCATTGAGTTCC	0.582000													54	66					0	0	0.003610	0	0
OXER1	165140	broad.mit.edu	37	2	42990265	42990265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:42990265G>A	ENST00000378661.2	-	1	1136	c.1055C>T	c.(1054-1056)cCc>cTc	p.P352L		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	352					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GTAGAGCACGGGGTCCAGGAC	0.652000													22	21					0	0	0.002299	0	0
NLRP13	126204	broad.mit.edu	37	19	56424631	56424631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:56424631C>T	ENST00000588751.1	-	5	576	c.552G>A	c.(550-552)atG>atA	p.M184I	NLRP13_ENST00000342929.3_Missense_Mutation_p.M184I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	184							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)		GTTCAGCCTTCATGTTCTCTC	0.433000													34	123					0	0	0.004289	0	0
CALCR	799	broad.mit.edu	37	7	93101800	93101800	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:93101800C>T	ENST00000359558.2	-	7	670		c.e7-1		CALCR_ENST00000394441.1_Splice_Site|CALCR_ENST00000421592.1_Splice_Site|CALCR_ENST00000426151.1_Splice_Site|CALCR_ENST00000360249.4_Splice_Site	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor						activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GTAACCTTTTCTGTTAATGAA	0.308000													9	48					0	0	0.004482	0	0
PRAME	23532	broad.mit.edu	37	22	22892525	22892525	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:22892525G>A	ENST00000543184.1	-	4	1438	c.576C>T	c.(574-576)ttC>ttT	p.F192F	PRAME_ENST00000424204.2_Silent_p.F176F|PRAME_ENST00000402697.1_Silent_p.F192F|PRAME_ENST00000539862.1_Silent_p.F176F|PRAME_ENST00000405655.3_Silent_p.F192F|PRAME_ENST00000398741.1_Silent_p.F192F|PRAME_ENST00000398743.2_Silent_p.F192F	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	192					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGAGGTAGGAGAACAATTCAT	0.453000													37	58					0	0	0.008740	0	0
OR1N2	138882	broad.mit.edu	37	9	125316149	125316149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:125316149C>T	ENST00000373688.2	+	1	759	c.701C>T	c.(700-702)tCc>tTc	p.S234F		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATCGTCTTCTCCTATGTCCGC	0.522000													65	15					0	0	0.003610	0	0
TEKT3	64518	broad.mit.edu	37	17	15234783	15234783	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:15234783G>A	ENST00000395930.1	-	3	306	c.120C>T	c.(118-120)tcC>tcT	p.S40S	TEKT3_ENST00000338696.2_Silent_p.S40S	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	40					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGGTCAAATTGGAGTGGGGAA	0.537000													18	37					0	0	0.004990	0	0
SLC22A2	6582	broad.mit.edu	37	6	160662605	160662605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:160662605G>A	ENST00000366953.3	-	9	1660	c.1402C>T	c.(1402-1404)Cac>Tac	p.H468Y	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	468					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GAACAGATGTGGACGCCAAGA	0.468000													34	6					0	0	0.003755	0	0
IL1F10	84639	broad.mit.edu	37	2	113832373	113832373	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:113832373G>A	ENST00000393197.2	+	3	613	c.192G>A	c.(190-192)ggG>ggA	p.G64G	IL1F10_ENST00000341010.2_Silent_p.G64G|IL1F10_ENST00000337569.3_Silent_p.G64G	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	64						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TCCAGGGAGGGAGCCGCTGCC	0.587000													15	48					0	0	0.003163	0	0
FOXI1	2299	broad.mit.edu	37	5	169533105	169533105	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:169533105C>T	ENST00000449804.2	+	1	189	c.144C>T	c.(142-144)tcC>tcT	p.S48S	FOXI1_ENST00000306268.6_Silent_p.S48S	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	48	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCGGCCCTCCTTCGAGGGGG	0.687000									Pendred syndrome				18	13					0	0	0.008871	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959875	102959875	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:102959875A>C	ENST00000311734.2	+	8	1309	c.970A>C	c.(970-972)Agt>Cgt	p.S324R	IL1RL1_ENST00000409584.1_Missense_Mutation_p.S310R|IL1RL1_ENST00000233954.1_Splice_Site_p.I324_splice|IL1RL1_ENST00000404917.2_Missense_Mutation_p.S207R			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	0					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GAAAAATCCAAGTAAGGAGTG	0.443000													59	52					0	0	0.003610	0	0
PAPPA	5069	broad.mit.edu	37	9	118974126	118974126	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:118974126C>T	ENST00000328252.3	+	4	2202	c.1833C>T	c.(1831-1833)tcC>tcT	p.S611S	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	611					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AACACAAGTCCTGTGGTGACC	0.527000													107	29					0	0	0.003610	0	0
UBASH3A	53347	broad.mit.edu	37	21	43863433	43863433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr21:43863433C>T	ENST00000319294.6	+	13	1674	c.1643C>T	c.(1642-1644)cCc>cTc	p.P548L	UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Missense_Mutation_p.P510L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	548	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CCCGCGTTTCCCCTGTCCGCC	0.592000													6	3					0	0	0.001984	0	0
PSG1	5669	broad.mit.edu	37	19	43382078	43382078	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:43382078G>A	ENST00000244296.2	-	2	554	c.417C>T	c.(415-417)acC>acT	p.T139T	PSG1_ENST00000595356.1_Silent_p.T139T|PSG1_ENST00000595124.1_Silent_p.T139T|PSG1_ENST00000436291.2_Silent_p.T139T|PSG1_ENST00000403380.3_Silent_p.T139T|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Silent_p.T139T	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GTAAGGTGAAGGTGAAACGTC	0.527000													106	80					0	0	0.003610	0	0
FIG4	9896	broad.mit.edu	37	6	110098168	110098168	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:110098168C>T	ENST00000230124.3	+	16	1918	c.1794C>T	c.(1792-1794)ttC>ttT	p.F598F	FIG4_ENST00000441478.2_Silent_p.F321F	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	598				F -> S (in Ref. 2; BAD96452).	cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TGGGAGTTTTCCATCCCACTG	0.363000													29	7					0	0	0.006320	0	0
LILRB2	10288	broad.mit.edu	37	19	54782844	54782844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:54782844C>T	ENST00000391748.1	-	6	905	c.778G>A	c.(778-780)Ggg>Agg	p.G260R	LILRB2_ENST00000434421.1_Missense_Mutation_p.G144R|LILRB2_ENST00000391749.4_Missense_Mutation_p.G260R|LILRB2_ENST00000314446.5_Missense_Mutation_p.G260R|LILRB2_ENST00000391746.1_Missense_Mutation_p.G260R	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	260	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACGTTCCCCCTCCTTGTAC	0.647000													14	47					0	0	0.002450	0	0
LY75	4065	broad.mit.edu	37	2	160688295	160688295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:160688295G>A	ENST00000263636.4	-	28	3871	c.3844C>T	c.(3844-3846)Cca>Tca	p.P1282S	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P1282S|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P1282S|LY75_ENST00000554112.1_Missense_Mutation_p.P1282S|LY75_ENST00000553424.1_Missense_Mutation_p.P1282S	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGTGATTTTGGATCTGTTGAA	0.279000													12	35					0	0	0.000978	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809785	18809785	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:18809785C>T	ENST00000400664.1	+	1	2362	c.2310C>T	c.(2308-2310)ccC>ccT	p.P770P		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	770						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCACCCCCGATTTGCCTC	0.657000													18	80					0	0	0.008871	0	0
ZNF440	126070	broad.mit.edu	37	19	11942602	11942602	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:11942602T>A	ENST00000304060.5	+	4	775	c.611T>A	c.(610-612)tTt>tAt	p.F204Y		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAATGTAAGTTTTGTGGGAAA	0.373000													33	63					0	0	0.003755	0	0
THSD7B	80731	broad.mit.edu	37	2	137814229	137814229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:137814229C>T	ENST00000409968.1	+	3	557	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	THSD7B_ENST00000413152.2_Missense_Mutation_p.R96W|THSD7B_ENST00000272643.3_Missense_Mutation_p.R127W					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGTCAAGCCTCGGACTGCAGA	0.537000													21	34					0	0	0.008871	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316469	39316469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:39316469G>A	ENST00000390661.3	-	1	514	c.475C>T	c.(475-477)Cat>Tat	p.H159Y		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	159						keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGGCCACAATGGGGCCTGTAG	0.617000													30	15					0	0	0.002096	0	0
TCF25	22980	broad.mit.edu	37	16	89954071	89954071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:89954071C>T	ENST00000263346.8	+	5	616	c.560C>T	c.(559-561)cCa>cTa	p.P187L	TCF25_ENST00000263347.7_5'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	187					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CACTTGAATCCAGACACAGAA	0.428000													20	49					0	0	0.001523	0	0
ITGA4	3676	broad.mit.edu	37	2	182388248	182388248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:182388248C>T	ENST00000397033.2	+	19	2588	c.2158C>T	c.(2158-2160)Cat>Tat	p.H720Y		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	720					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATATGTAGATCATCTCTCAAG	0.328000													7	23					0	0	0.001984	0	0
ABCA13	154664	broad.mit.edu	37	7	48316082	48316082	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:48316082C>T	ENST00000435803.1	+	17	6843	c.6819C>T	c.(6817-6819)tcC>tcT	p.S2273S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2273					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						CATTCTTCTCCCTTTTTCTAA	0.343000													14	38					0	0	0.003163	0	0
PTPRB	5787	broad.mit.edu	37	12	70953309	70953309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:70953309C>T	ENST00000334414.6	-	18	4572	c.4528G>A	c.(4528-4530)Gac>Aac	p.D1510N	PTPRB_ENST00000550358.1_Missense_Mutation_p.D1422N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1509N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1202N|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1202N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1292N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1202N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1292	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCTCAAAGTCGTTGTAGTCT	0.498000													70	114					0	0	0.003610	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840680	1840680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr17:1840680C>T	ENST00000331238.5	-	2	454	c.436G>A	c.(436-438)Ggc>Agc	p.G146S		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	146					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TGCAGGCCGCCAAAGACGCCG	0.627000													26	31					0	0	0.004656	0	0
SLC9C2	284525	broad.mit.edu	37	1	173486750	173486750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:173486750C>T	ENST00000367714.3	-	23	3255	c.2833G>A	c.(2833-2835)Gac>Aac	p.D945N	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	945					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CCAATTATGTCCCCAGTAGTA	0.398000													29	127					0	0	0.007291	0	0
HAS1	3036	broad.mit.edu	37	19	52222589	52222589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr19:52222589G>A	ENST00000540069.2	-	2	629	c.569C>T	c.(568-570)cCt>cTt	p.P190L	HAS1_ENST00000601714.1_Missense_Mutation_p.P198L|HAS1_ENST00000594621.1_Missense_Mutation_p.P45L|HAS1_ENST00000222115.1_Missense_Mutation_p.P191L			Q92839	HAS1_HUMAN	hyaluronan synthase 1	191					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CAGCCGCCCAGGATCCTCCGC	0.716000													4	13					0	0	0.000248	0	0
UROC1	131669	broad.mit.edu	37	3	126224622	126224622	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:126224622G>A	ENST00000290868.2	-	8	788	c.735C>T	c.(733-735)gtC>gtT	p.V245V	UROC1_ENST00000383579.3_Silent_p.V245V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	245					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCCCAGAGGTGACAAAGACCT	0.632000													17	32					0	0	0.007413	0	0
RSPO2	340419	broad.mit.edu	37	8	109001367	109001367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:109001367C>T	ENST00000276659.5	-	3	820	c.200G>A	c.(199-201)gGg>gAg	p.G67E	RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	67					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTGGCGCATCCCTTCTCTTCG	0.473000													25	49					0	0	0.003330	0	0
OR51M1	390059	broad.mit.edu	37	11	5411279	5411279	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:5411279C>T	ENST00000328611.3	+	1	673	c.651C>T	c.(649-651)ttC>ttT	p.F217F	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	217						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTAGTTTTCACTGTGATGC	0.537000													38	46					0	0	0.003755	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036627	13036627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:13036627G>A	ENST00000376187.1	+	2	699	c.699G>A	c.(697-699)atG>atA	p.M233I	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	233										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						TGAGCCAGATGAGGAATCTTC	0.458000													54	179					0	0	0.003610	0	0
TMEM5	10329	broad.mit.edu	37	12	64202862	64202862	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr12:64202862A>G	ENST00000537373.1	+	6	1490	c.542A>G	c.(541-543)aAt>aGt	p.N181S	TMEM5-AS1_ENST00000546214.1_RNA|TMEM5_ENST00000261234.6_Missense_Mutation_p.N441S	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	441						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TTAATGAATAATAAAAGTTAA	0.254000													6	7					0	0	0.001168	0	0
FAM193A	8603	broad.mit.edu	37	4	2695495	2695495	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr4:2695495A>C	ENST00000324666.5	+	14	2464	c.2113A>C	c.(2113-2115)Aca>Cca	p.T705P	FAM193A_ENST00000545951.1_Missense_Mutation_p.T705P|FAM193A_ENST00000502458.1_Missense_Mutation_p.T727P|FAM193A_ENST00000505311.1_Missense_Mutation_p.T705P|FAM193A_ENST00000382839.3_Missense_Mutation_p.T705P	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	705										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATTCCCCAAAACAGCAACCAC	0.607000													65	78					0	0	0.003610	0	0
CDS2	8760	broad.mit.edu	37	20	5170841	5170841	+	Silent	SNP	C	C	T	rs138757559	byFrequency	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:5170841C>T	ENST00000460006.1	+	13	1606	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	CDS2_ENST00000535100.1_Silent_p.I203I|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Silent_p.I313I	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	433					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CTCATCTGATCGACAAAGGGA	0.562000													19	16					0	0	0.008871	0	0
GRIN1	2902	broad.mit.edu	37	9	140058347	140058347	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:140058347G>A	ENST00000371561.3	+	18	3677	c.2580G>A	c.(2578-2580)aaG>aaA	p.K860K	GRIN1_ENST00000371559.4_Silent_p.K860K|GRIN1_ENST00000371550.4_Silent_p.K860K|GRIN1_ENST00000371560.3_Silent_p.K881K|GRIN1_ENST00000371546.4_Silent_p.K881K|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Silent_p.K881K|GRIN1_ENST00000350902.5_Silent_p.K860K|GRIN1_ENST00000371555.4_Silent_p.K881K|GRIN1_ENST00000315048.3_Silent_p.K860K	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	860					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TGTGGCGGAAGAACCTGCAGG	0.652000													35	26					0	0	0.003755	0	0
CSMD1	64478	broad.mit.edu	37	8	3265640	3265640	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr8:3265640G>C	ENST00000520002.1	-	15	2410	c.1855C>G	c.(1855-1857)Cca>Gca	p.P619A	CSMD1_ENST00000537824.1_Missense_Mutation_p.P618A|CSMD1_ENST00000539096.1_Missense_Mutation_p.P618A|CSMD1_ENST00000400186.3_Missense_Mutation_p.P619A|CSMD1_ENST00000542608.1_Missense_Mutation_p.P618A|CSMD1_ENST00000602557.1_Missense_Mutation_p.P619A|CSMD1_ENST00000602723.1_Missense_Mutation_p.P619A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	619	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGACTTCCTGGCTCCGAGATA	0.408000													5	21					0	0	0.001168	0	0
DDX20	11218	broad.mit.edu	37	1	112308368	112308368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:112308368C>T	ENST00000475700.1	+	3	2504	c.146C>T	c.(145-147)cCt>cTt	p.P49L	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000369702.4_Missense_Mutation_p.P441L			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	441					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCCCATTCCTTCTGGTCTG	0.353000													37	87					0	0	0.005524	0	0
ECI1	1632	broad.mit.edu	37	16	2290030	2290030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:2290030G>A	ENST00000301729.4	-	7	906	c.859C>T	c.(859-861)Cag>Tag	p.Q287*	ECI1_ENST00000562238.1_Nonsense_Mutation_p.Q270*|ECI1_ENST00000570258.1_Nonsense_Mutation_p.Q228*	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	287					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity			endometrium(1)|large_intestine(2)|lung(6)	9						AGGGACTTCTGGATGGAGTCT	0.582000													21	47					0	0	0.002780	0	0
LRRK1	79705	broad.mit.edu	37	15	101523787	101523787	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:101523787C>T	ENST00000284395.5	+	4	635	c.235C>T	c.(235-237)Cta>Tta	p.L79L	LRRK1_ENST00000532029.2_Silent_p.L106L|LRRK1_ENST00000388948.3_Silent_p.L106L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	106					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGTCCGCTACCTACTCAGCAA	0.577000													73	41					0	0	0.003610	0	0
PARP6	56965	broad.mit.edu	37	15	72551976	72551976	+	Silent	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr15:72551976G>A	ENST00000569795.1	-	11	1470	c.783C>T	c.(781-783)ccC>ccT	p.P261P	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Silent_p.P261P|PARP6_ENST00000260376.7_Silent_p.P261P			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	261							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ACTCCAGAGTGGGAATGTTCT	0.502000													104	88					0	0	0.003610	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574090	140574090	+	Silent	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr5:140574090C>T	ENST00000239446.4	+	1	2149	c.1965C>T	c.(1963-1965)acC>acT	p.T655T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		655	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGGCCACCGCCACGCTGC	0.711000													30	8					0	0	0.006320	0	0
ACP2	53	broad.mit.edu	37	11	47266325	47266325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr11:47266325C>T	ENST00000256997.3	-	7	849	c.733G>A	c.(733-735)Gga>Aga	p.G245R	ACP2_ENST00000529444.1_Missense_Mutation_p.G182R|ACP2_ENST00000527256.1_Missense_Mutation_p.G213R|ACP2_ENST00000537863.1_Missense_Mutation_p.G58R|ACP2_ENST00000533929.1_Missense_Mutation_p.G217R|ACP2_ENST00000525230.1_5'UTR	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	245						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						TGGTAGATTCCGAAGAGGAAG	0.602000													35	46					0	0	0.005524	0	0
LUZP1	7798	broad.mit.edu	37	1	23417786	23417786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:23417786G>A	ENST00000302291.4	-	4	3770	c.2969C>T	c.(2968-2970)tCc>tTc	p.S990F	LUZP1_ENST00000314174.5_Missense_Mutation_p.S990F|LUZP1_ENST00000374623.3_Missense_Mutation_p.S990F|LUZP1_ENST00000418342.1_Missense_Mutation_p.S990F			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	990						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GGTCCTTCTGGAGGAGGGCTC	0.577000													16	29					0	0	0.004007	0	0
OR2L2	26246	broad.mit.edu	37	1	248201573	248201573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:248201573G>A	ENST00000366479.2	+	1	100	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTCCCCATGGAAAATTACAA	0.388000													56	50					0	0	0.003610	0	0
XPR1	9213	broad.mit.edu	37	1	180849298	180849298	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:180849298delC	ENST00000367590.4	+	14	2093	c.1895delC	c.(1894-1896)gcfs	p.A632fs	XPR1_ENST00000367589.3_Frame_Shift_Del_p.A567fs	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	632	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATCTCTGTGGCCCCCCTGAAC	0.507													74	30	---	---	---	---					
RP11-634B7.4	0	broad.mit.edu	37	1	247836369	247836369	+	RNA	DEL	A	A	-			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr1:247836369delA	ENST00000449298.1	+	0	681																											GAATGGCAGTAATTGCACAGA	0.408													42	23	---	---	---	---					
ICA1L	130026	broad.mit.edu	37	2	203682140	203682140	+	Splice_Site	DEL	C	C	-			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr2:203682140delC	ENST00000392237.2	-	7	842		c.e7+1		ICA1L_ENST00000358299.2_Splice_Site	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like											breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGTGGGTACCTGGTAGGTA	0.383													140	126	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294													3	3	---	---	---	---					
CLDN1	9076	broad.mit.edu	37	3	190039919	190039920	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr3:190039919_190039920insC	ENST00000295522.3	-	1	344_345	c.76_77insG	c.(76-78)cctfs	p.P26fs		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	26					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CTGGGGCAGGGCAGTGCTGACG	0.658													31	74	---	---	---	---					
RIMS1	22999	broad.mit.edu	37	6	72952079	72952079	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr6:72952079delA	ENST00000264839.7	+	10	2020	c.2020delA	c.(2020-2022)acfs	p.N674fs	RIMS1_ENST00000523963.1_Frame_Shift_Del_p.N148fs|RIMS1_ENST00000522291.1_Frame_Shift_Del_p.N674fs|RIMS1_ENST00000425662.2_Frame_Shift_Del_p.N67fs|RIMS1_ENST00000517827.1_Frame_Shift_Del_p.N133fs|RIMS1_ENST00000521978.1_Frame_Shift_Del_p.N674fs|RIMS1_ENST00000520567.1_Frame_Shift_Del_p.N674fs|RIMS1_ENST00000518273.1_Frame_Shift_Del_p.N674fs|RIMS1_ENST00000517960.1_Frame_Shift_Del_p.N674fs|RIMS1_ENST00000401910.3_Frame_Shift_Del_p.N148fs|RIMS1_ENST00000491071.2_Frame_Shift_Del_p.N674fs|RIMS1_ENST00000348717.5_Frame_Shift_Del_p.N674fs			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	674	PDZ.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAAGTTTACAACATTATTTT	0.308													4	7	---	---	---	---					
ASZ1	136991	broad.mit.edu	37	7	117003732	117003734	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr7:117003732_117003734delCTA	ENST00000284629.2	-	13	1406_1408	c.1344_1346delTAG	c.(1342-1347)aga>ag	p.SR448del		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	448					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTTCAAAATTCTACTATTCCATG	0.320													36	33	---	---	---	---					
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs34222232		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)del	p.S542del		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	542					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	p.S542delS(2)		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)		CGTCCTCCTCgctgctgctgctg	0.690													4	5	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													4	8	---	---	---	---					
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014	by1000genomes	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)ggg>gGGAgg	p.501_502insR	ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR|ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR			Q86UK7	ZN598_HUMAN	zinc finger protein 598	556						intracellular	zinc ion binding	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703													6	13	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308	by1000genomes	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr16:32077916_32077917insTTT	ENST00000566806.1	-	0	499																											ATGGAAAACGGTTATTTTTTTG	0.421													3	4	---	---	---	---					
SLCO4A1	28231	broad.mit.edu	37	20	61303154	61303164	+	Frame_Shift_Del	DEL	CGGAGTCTTCA	CGGAGTCTTCA	-	rs149499822	byFrequency	TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr20:61303154_61303164delCGGAGTCTTCA	ENST00000217159.1	+	12	2283_2293	c.2078_2088delCGGAGTCTTCA	c.(2077-2088)tfs	p.SESS693fs	SLCO4A1_ENST00000370507.1_Frame_Shift_Del_p.SESS693fs	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	693					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			AAGCCCCTGTCGGAGTCTTCAGATGGCCTGG	0.640													18	106	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28194933	28194934	+	In_Frame_Ins	INS	-	-	TGC	rs34890218		TCGA-EE-A2GB-06A-11D-A197-08	TCGA-EE-A2GB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d9a5b7-b819-458b-aadc-c95bf555c623	50d0e663-73a7-4eed-a158-a481ba0d5349	g.chr22:28194933_28194934insTGC	ENST00000302326.4	-	1	2552_2553	c.1598_1599insGCA	c.(1597-1599)cca>cGCAca	p.533_533P>RT		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgctg	0.653			T	ETV6	"""AML, meningioma"""								4	9	---	---	---	---					
