Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ATP1A3	478	broad.mit.edu	37	19	42489561	42489561	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:42489561G>A	uc002osh.3	-	6	775	c.621C>T	c.(619-621)tcC>tcT	p.S207S	ATP1A3_uc010xwf.2_Silent_p.S218S|ATP1A3_uc010xwg.2_Silent_p.S177S|ATP1A3_uc002osg.3_Silent_p.S207S|ATP1A3_uc010xwh.2_Silent_p.S220S			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	207					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CGCCAGTCAGGGAGGAGTTGT	0.597000														115			26		0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967015	81967015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:81967015C>T	uc003hmg.4	+	1	760	c.440C>T	c.(439-441)cCa>cTa	p.P147L		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	147					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CTGAGTTGTCCAGTGTCTGGA	0.428000														59			10		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71146478	71146478	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:71146478C>T	uc001oqk.3	-	8	1621	c.1371G>A	c.(1369-1371)cgG>cgA	p.R457R	DHCR7_uc001oql.3_Silent_p.R457R	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	457					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GCTCCCAGTCCCGGCCGTACT	0.652000									Smith-Lemli-Opitz syndrome					101			58		0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67166422	67166422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:67166422C>T	uc002erd.3	+	4	513	c.349C>T	c.(349-351)Cct>Tct	p.P117S	C16orf70_uc002erc.3_Missense_Mutation_p.P117S|C16orf70_uc002ere.1_Missense_Mutation_p.P95S	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	117								p.H116N(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CGCAACCCATCCTGGAGGTAA	0.463000														181			37		0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4858534	4858534	+	Silent	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:4858534T>C	uc010vst.2	+	1	299	c.117T>C	c.(115-117)gaT>gaC	p.D39D	ENO3_uc010vsr.2_Silent_p.D110D|ENO3_uc002gab.4_Silent_p.D203D|ENO3_uc002gac.4_Silent_p.D203D|ENO3_uc010vss.2_Silent_p.D160D	NM_001193503	NP_001180432	P13929	ENOB_HUMAN	Homo sapiens enolase 3 (beta, muscle) (ENO3), transcript variant 3, mRNA.	203					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						ATGGGAAGGATGCCACCAATG	0.597000														51			41		0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331925	17331925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:17331925G>A	uc001baa.2	-	2	422	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	ATP13A2_uc001bac.2_Missense_Mutation_p.R78W|ATP13A2_uc001bab.2_Missense_Mutation_p.R78W	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	78					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)		TTGCAGGGCCGGAGCCGCAGC	0.607000														14			11		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15535023	15535023	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:15535023G>A	uc002nbc.3	-	6	2741	c.2718C>T	c.(2716-2718)ttC>ttT	p.F906F	WIZ_uc002nba.4_Silent_p.F773F|WIZ_uc002nbb.4_Silent_p.F732F	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1589						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TGTTGCCCACGAACTTGACAA	0.647000														27			9		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37064712	37064712	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:37064712C>T	uc003jkl.4	+	46	8632	c.8133C>T	c.(8131-8133)atC>atT	p.I2711I	NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2711					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGGATGTCATCGCTATTTGCT	0.453000														122			36		0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102097926	102097926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:102097926G>A	uc003uzl.3	-	2	862	c.824C>T	c.(823-825)gCt>gTt	p.A275V	ALKBH4_uc003uzm.3_Missense_Mutation_p.A202V	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	Homo sapiens alkB, alkylation repair homolog 4 (E. coli) (ALKBH4), mRNA.	275						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						GCCAAACTCAGCCGACAGCTC	0.667000														51			27		0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122085217	122085217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:122085217C>T	uc021xrj.1	-	3	374	c.295G>A	c.(295-297)Gag>Aag	p.E99K	TNIP3_uc010ing.3_Missense_Mutation_p.E22K|TNIP3_uc011cgj.2_Missense_Mutation_p.E92K|TNIP3_uc010ini.3_Missense_Mutation_p.E22K	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	22			K -> E (in dbSNP:rs10000692).							NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTCTTACCTCTTTATGCTCC	0.393000														58			12		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99932099	99932099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:99932099C>T	uc001pga.3	+	9	1640	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	CNTN5_uc009ywv.2_Missense_Mutation_p.S379F|CNTN5_uc001pfz.3_Missense_Mutation_p.S379F|CNTN5_uc021qpb.1_Missense_Mutation_p.S379F|CNTN5_uc021qpc.1_Missense_Mutation_p.S305F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	379	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAAAAATTCCTTTCGTGGA	0.408000														41			22		0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32481453	32481453	+	Silent	SNP	C	T	T	rs139652205		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:32481453C>T	uc001rku.3	+	4	2145	c.2064C>T	c.(2062-2064)atC>atT	p.I688I	BICD1_uc001rkv.3_Silent_p.I688I|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	688	Interacts with RAB6A.				RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGGAGCAGATCGCCACATTGA	0.473000														88			25		0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29041276	29041276	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:29041276A>T	uc001bra.3	+	9	1855	c.1713A>T	c.(1711-1713)ttA>ttT	p.L571F	GMEB1_uc001bqz.3_Missense_Mutation_p.L561F|GMEB1_uc001brb.3_Missense_Mutation_p.L561F	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTGGTCTTAGAGGATTAAC	0.408000														86			27		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75015174	75015175	+	Silent	DNP	GG	AA	AA			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:75015174_75015175GG>AA	uc002ayp.4	-	1	386_387	c.264_265CC>TT	c.(262-267)ggcctg>ggTTtg	p.88_89GL>GL	CYP1A1_uc010bjy.3_Silent_p.88_89GL>GL|CYP1A1_uc010bju.3_Intron|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Silent_p.88_89GL>GL|CYP1A1_uc010bjz.1_Intron|CYP1A1_uc021sqk.1_Silent_p.88_89GL>GL	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	88					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ATGGTGTCCAGGCCGCTCAGCA	0.614000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					49			27		0	0	1	0	0
LOC654342	654342	broad.mit.edu	37	2	91843393	91843393	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:91843393C>T	uc002sts.4	-	2		c.176_splice	c.e2+1		LOC654342_uc010yub.1_Splice_Site					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC654342), non-coding RNA.																		GGGGACCTTACCTTGCAGGAT	0.597000														42			13		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189861890	189861890	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:189861890G>A	uc002uqj.1	+	25	1879	c.1762_splice	c.e25-1	p.G588_splice		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	588	Triple-helical region.		G -> D (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.?(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTCTTCTTTAGGGTGCTCCTG	0.393000														89			21		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111482704	111482704	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:111482704A>G	uc003iab.4	+	19	3206	c.2864A>G	c.(2863-2865)gAg>gGg	p.E955G		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	955					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AATTTACTTGAGAGTGGTTAA	0.348000														13			8		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61308225	61308225	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr18:61308225C>T	uc002ljf.3	-	5	438	c.352_splice	c.e5-1	p.E118_splice	SERPINB3_uc002lje.3_Splice_Site_p.E118_splice|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	118					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						TCTAAATATTCCTTTGAGATA	0.343000														11			27		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765976	18765976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:18765976G>A	uc010exr.3	-	3	645	c.533C>T	c.(532-534)tCg>tTg	p.S178L	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.S236L|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.S176L|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.S236L|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.S219L|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.S253L|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.S238L|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.S176L|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.S28L	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	236	Pro-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										GGACGTGCGCGAATATTCCAG	0.662000														41			13		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235956850	235956850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:235956850C>T	uc001hxj.2	-	10	4244	c.4069G>A	c.(4069-4071)Gag>Aag	p.E1357K	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.E1357K	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1357					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGGGTTAGCTCTTCTGAACAT	0.313000														96			19		0	0	1	0	0
ACBD7	414149	broad.mit.edu	37	10	15060109	15060109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:15060109C>T	uc010qby.1	-	4	332	c.23G>A	c.(22-24)gGg>gAg	p.G8E	DCLRE1C_uc021pni.1_Intron			Q8N6N7	ACBD7_HUMAN	Homo sapiens acyl-CoA binding domain containing 7 (ACBD7), mRNA.	0	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						ATCTGAAGTCCCCTGTGTACA	0.418000														50			51		0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233612407	233612407	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:233612407C>T	uc002vtj.4	+	4	391	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	GIGYF2_uc010zmj.1_Missense_Mutation_p.R42C|GIGYF2_uc002vtg.2_Missense_Mutation_p.R42C|GIGYF2_uc002vti.4_Missense_Mutation_p.R42C|GIGYF2_uc002vtk.4_Missense_Mutation_p.R42C|GIGYF2_uc002vth.4_Missense_Mutation_p.R42C|GIGYF2_uc010zmk.2_Non-coding_Transcript	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	42					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCAGATTATCGTTACGGCAG	0.398000														82			47		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123049764	123049764	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:123049764T>C	uc003egh.2	-	4	1618	c.1618A>G	c.(1618-1620)Atg>Gtg	p.M540V	ADCY5_uc021xdd.1_Missense_Mutation_p.M190V|ADCY5_uc003egg.2_Missense_Mutation_p.M173V|ADCY5_uc003egi.1_Missense_Mutation_p.M99V	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	540	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCCATGCCCATCTCCACACAG	0.582000														64			15		0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183624	11183624	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:11183624A>G	uc001qzo.1	-	0	383	c.311T>C	c.(310-312)aTa>aCa	p.I104T	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176885	NP_795366	P59538	T2R31_HUMAN	Homo sapiens taste receptor, type 2, member 31 (TAS2R31), mRNA.	104					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						CAAATAAAATATGCTGAGGCT	0.393000														153			15		0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163317606	163317606	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:163317606G>A	uc001gcq.1	+	11	1302	c.1002G>A	c.(1000-1002)ttG>ttA	p.L334L	NUF2_uc001gcr.1_Silent_p.L334L	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	334	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TGAAGAAATTGAAGACTGAAG	0.333000														26			18		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056676	64056677	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:64056676_64056677CC>TT	uc010rni.2	+	8	1295_1296	c.1267_1268CC>TT	c.(1267-1269)ccc>TTc	p.P423F	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.P365F|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	365						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGATCCCCCTCCCTCCCCCACA	0.649000														139			60		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32046931	32046931	+	Silent	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:32046931A>G	uc003nzl.2	-	10	4456	c.4254T>C	c.(4252-4254)gtT>gtC	p.V1418V		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1505	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTTGCCCCCAACACGCACCG	0.667000														90			114		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471828	47471828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:47471828C>T	uc001rpm.3	-	2	1613	c.958G>A	c.(958-960)Gat>Aat	p.D320N	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.D320N|AMIGO2_uc001rpl.3_Missense_Mutation_p.D320N|AMIGO2_uc021qxg.1_Missense_Mutation_p.D320N	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	320	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CAGATGAAATCCGTATTTGCA	0.463000														137			61		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214787141	214787141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:214787141G>A	uc001hkm.3	+	1	218	c.44G>A	c.(43-45)aGa>aAa	p.R15K		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	15	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTGCCTACAAGAGCTCTTCAG	0.423000														43			20		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28821530	28821530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:28821530G>A	uc002rmb.2	+	34	2421	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	PLB1_uc010ezj.2_Missense_Mutation_p.E782K	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	793	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TATCCTTCGGGAGTTTAACAG	0.517000														162			29		0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1487373	1487373	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:1487373G>A	uc003skj.4	-	3	510	c.363C>T	c.(361-363)gcC>gcT	p.A121A		NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	121						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGTCCTCCGAGGCCCTCTTCA	0.662000														9			7		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92565007	92565007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:92565007C>T	uc001pdj.4	+	12	9718	c.9701C>T	c.(9700-9702)cCt>cTt	p.P3234L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3234	Cadherin 29.				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)				GACAACCCCCCTGTGTTTGAG	0.552000										TCGA Ovarian(4;0.039)				25			9		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136325	55136325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:55136325G>A	uc010rif.2	+	0	966	c.966G>A	c.(964-966)atG>atA	p.M322I		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGCAGAAATGAAAAGTGCCA	0.373000														105			46		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79403083	79403083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:79403083C>T	uc003hlb.2	+	56	9009	c.8569C>T	c.(8569-8571)Cgg>Tgg	p.R2857W		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2852	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.R2858W(1)|p.R2857W(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCCAGCTCTCGGAAGGTGGA	0.522000														64			21		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183657973	183657973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:183657973G>A	uc003ivd.1	+	15	3055	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	ODZ3_uc003ive.1_Missense_Mutation_p.E400K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	994					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACTCCACGAGGAAACTACAAT	0.363000														9			4		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039441	248039441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:248039441G>A	uc001ido.3	+	5	1159	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	371	B30.2/SPRY.					intracellular	zinc ion binding	p.K370*(1)|p.K370R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCAAGAAAGGGGGAAACCAC	0.557000														77			38		0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129540	1129540	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:1129540C>T	uc021taf.1	+	1	743	c.672C>T	c.(670-672)atC>atT	p.I224I	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.I224I	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	224					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	ACCTGCTCATCGTGGTGAAGG	0.687000														29			19		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302466	15302466	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:15302466G>T	uc002nan.3	-	5	881	c.805C>A	c.(805-807)Cag>Aag	p.Q269K	NOTCH3_uc002nao.1_Missense_Mutation_p.Q269K	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	269	EGF-like 6; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGCAGAACTGGCCTGTGGCA	0.657000														34			5		3.59834e-05	3.64042e-05	1	1	0
RNF5P1	286140	broad.mit.edu	37	8	38458414	38458415	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:38458414_38458415GG>AA	uc003xly.3	-	0	361_362	c.304_305CC>TT	c.(304-306)cca>TTa	p.P102L						Homo sapiens ring finger protein 5 pseudogene 1 (RNF5P1), non-coding RNA.																		CTCTGGAGCTGGTCTCTGGCCC	0.569000														47			4		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117230431	117230431	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:117230431G>T	uc003vjd.3	+	12	1836	c.1704G>T	c.(1702-1704)ttG>ttT	p.L568F	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	568	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATGCTGATTTGTATTTATTAG	0.299000									Cystic Fibrosis					64			7		7.48243e-07	7.60552e-07	1	1	0
DL492607	0	broad.mit.edu	37	11	113661099	113661099	+	RNA	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:113661099C>T	uc001pof.1	+	0		c.1147C>T								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		TGTCCCCCTTCGACCAGTCGG	0.532000														79			36		0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59599224	59599224	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:59599224G>A	uc001noi.3	-	7	1167	c.1119C>T	c.(1117-1119)atC>atT	p.I373I		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	373					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGATATTGTTGATAGAAGAGA	0.378000														71			30		0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2752299	2752299	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:2752299G>A	uc003smr.1	+	6	1645	c.1284G>A	c.(1282-1284)gtG>gtA	p.V428V	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Silent_p.V177V	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	428							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGGACCTGGTGCAGGTGGACA	0.692000														59			9		0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56765977	56765977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:56765977C>T	uc003hbe.1	+	16	2422	c.2264C>T	c.(2263-2265)gCc>gTc	p.A755V	EXOC1_uc003hbf.1_Missense_Mutation_p.A755V|EXOC1_uc003hbg.1_Missense_Mutation_p.A740V	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	755					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAAAAAGAAGCCAAACAAAAA	0.323000														46			59		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695227	247695227	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:247695227T>A	uc021pmb.1	-	0	587	c.587A>T	c.(586-588)aAt>aTt	p.N196I	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.N196I	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTCCATCTCATTGAGGCTGGT	0.537000														54			9		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60485496	60485496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:60485496G>A	uc002ybn.2	+	8	1295	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	CDH4_uc002ybr.2_Missense_Mutation_p.E366K|CDH4_uc002ybp.2_Missense_Mutation_p.E329K	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	403	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding	p.E403K(2)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGGTCCCCGAAAACCGCGT	0.522000														67			32		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143092521	143092521	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:143092521T>G	uc003wcz.3	-	11	2061	c.1974A>C	c.(1972-1974)ttA>ttC	p.L658F		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	658	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATGTGTCTTTTAAGGTCTTAA	0.542000											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		135			33		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812215	2812216	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:2812215_2812216CC>TT	uc002crk.3	+	10	2235_2236	c.1686_1687CC>TT	c.(1684-1689)tcccac>tcTTac	p.H563Y	SRRM2_uc002crj.1_Missense_Mutation_p.H467Y|SRRM2_uc002crl.1_Missense_Mutation_p.H563Y|SRRM2_uc010bsu.1_Missense_Mutation_p.H467Y	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	563	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAGGGAGGTCCCACTCTAGATC	0.614000														22			18		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328643	80328643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:80328643C>T	uc003hlu.3	-	0	730	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	238				E -> G (in Ref. 2; BAF84930).	glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCATAGATCTCAGAAGAACTG	0.413000														51			11		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54590048	54590048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:54590048G>A	uc021smr.1	+	9	4022	c.4022G>A	c.(4021-4023)cGa>cAa	p.R1341Q	UNC13C_uc021sms.1_Missense_Mutation_p.R1343Q|UNC13C_uc002acl.3_Missense_Mutation_p.R173Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1343					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)		GGGGCCATACGATTGAAAATC	0.343000														17			7		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44673700	44673700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:44673700G>A	uc010zxl.1	+	11	1635	c.1559G>A	c.(1558-1560)gGg>gAg	p.G520E	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.G497E	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	520					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCACCTGTGGGGCTGGGCTG	0.612000														167			81		0	0	1	0	0
BC037357	0	broad.mit.edu	37	17	15332941	15332941	+	RNA	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:15332941G>A	uc002goo.3	-	0		c.378C>T								Homo sapiens cDNA clone IMAGE:3626633, partial cds.																		tttggtggtggtggagatGCT	0.478000														3			2		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220505584	220505584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:220505584C>T	uc002vmo.4	+	21	3811	c.3602C>T	c.(3601-3603)tCc>tTc	p.S1201F	SLC4A3_uc002vmp.4_Missense_Mutation_p.S1174F|SLC4A3_uc010fwm.3_Missense_Mutation_p.S724F	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1174	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGTCAAGTCCACGGCGGCC	0.647000														72			24		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853499	12853499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:12853499G>A	uc001auj.2	+	1	226	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	41										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACTCTTCATGGAGGCCTTCA	0.587000														70			39		0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349140	103349140	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:103349140G>A	uc022cbz.1	-	0	801	c.801C>T	c.(799-801)ctC>ctT	p.L267L	SLC25A53_uc004elu.3_Silent_p.L267L	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	267					transport	integral to membrane|mitochondrial inner membrane											GGTAGATCAGGAGCAGCTTTC	0.557000														48			5		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84494308	84494308	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:84494308G>A	uc010chj.3	+	24	2558	c.2469G>A	c.(2467-2469)cgG>cgA	p.R823R	ATP2C2_uc002fhx.3_Silent_p.R794R|ATP2C2_uc002fhy.3_Silent_p.R811R|ATP2C2_uc002fhz.3_Silent_p.R643R|ATP2C2_uc002fia.3_Silent_p.R105R	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	794					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGCCACCACGGAGTGTGCGGG	0.542000														93			92		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272358	11272358	+	Silent	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:11272358T>A	uc021tcy.1	+	23	3203	c.2973T>A	c.(2971-2973)atT>atA	p.I991I	CLEC16A_uc002dao.3_Silent_p.I989I|CLEC16A_uc002dap.3_Silent_p.I78I	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	991								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCCCACCATTTCCCTGCTCT	0.672000														138			32		0	0	1	0	0
HCRTR1	3061	broad.mit.edu	37	1	32092393	32092393	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:32092393A>G	uc009vtx.2	+	8	1475	c.1090A>G	c.(1090-1092)Aaa>Gaa	p.K364E	HCRTR1_uc001btc.4_Intron|HCRTR1_uc001btd.2_Missense_Mutation_p.K364E|HCRTR1_uc010ogl.2_Intron	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	364					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		p.G363S(1)		breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CAACCAAGGCAAATTCCGGGA	0.622000														92			63		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853201	2853201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:2853201C>T	uc002lwo.3	+	3	1276	c.1138C>T	c.(1138-1140)Ccc>Tcc	p.P380S	ZNF555_uc002lwn.4_Missense_Mutation_p.P379S	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CTTCATTTATCCCCAGTCCTT	0.468000														43			5		0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183885816	183885816	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:183885816C>T	uc003fms.3	+	12	1601	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S	DVL3_uc011bqw.2_Silent_p.S470S|DVL3_uc003fmt.3_Silent_p.S158S|DVL3_uc003fmu.3_Silent_p.S319S	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	487	DEP.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	p.S487S(2)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TCACCTTCTCCGAGCAGTGCT	0.582000														136			79		0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464985	104464985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:104464985C>T	uc004ema.3	-	1	209	c.97G>A	c.(97-99)Gag>Aag	p.E33K	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.E33K	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	33						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGATAGAACTCGGGGCCTTTC	0.552000														50			27		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139791802	139791802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:139791802C>T	uc003yvd.3	-	13	2101	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	552	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCCTGGCTCCCCCTGAACA	0.622000										HNSCC(7;0.00092)				97			20		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191898243	191898243	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:191898243A>G	uc002usm.2	-	19	2140	c.1825T>C	c.(1825-1827)Ttc>Ctc	p.F609L	STAT4_uc002usn.2_Missense_Mutation_p.F609L|STAT4_uc010zgk.1_Missense_Mutation_p.F454L|STAT4_uc002uso.2_Missense_Mutation_p.F609L	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	609	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCCAGGTGAAAGTTATTCCT	0.378000														39			18		0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79598800	79598800	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:79598800G>T	uc003ybd.3	+	3	411	c.309G>T	c.(307-309)gaG>gaT	p.E103D		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	103																	CCCTCAAAGAGGGTGGCAAAC	0.413000														45			3		1	1	1	1	0
WDR59	79726	broad.mit.edu	37	16	74943437	74943437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:74943437G>A	uc002fdh.1	-	15	1706	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L	WDR59_uc002fdi.3_Missense_Mutation_p.P535L|WDR59_uc002fdg.1_Missense_Mutation_p.P127L	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	535										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCTAGGAAAGGGAATGTTGGC	0.552000														81			23		0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736497	24736497	+	RNA	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:24736497C>T	uc001rgb.1	-	0		c.606G>A								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		TGAAAATCTCCCCAGACCCCA	0.527000														51			9		0	0	1	0	0
SMPX	23676	broad.mit.edu	37	X	21761899	21761899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:21761899C>T	uc004daa.3	-	2	332	c.101G>A	c.(100-102)aGa>aAa	p.R34K	SMPX_uc022btv.1_Non-coding_Transcript	NM_014332	NP_055147	Q9UHP9	SMPX_HUMAN	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.	34					striated muscle contraction					breast(1)|endometrium(1)	2						TTCTTTTCTTCTGGGGGGTTG	0.448000														74			42		0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78560771	78560771	+	Missense_Mutation	SNP	G	A	A	rs138753471	byFrequency	TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:78560771G>A	uc001dik.3	+	2	752	c.562G>A	c.(562-564)Gag>Aag	p.E188K	5S_rRNA_uc021oov.1_5'Flank	NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 2 (GIPC2), mRNA.	188	PDZ.					cytoplasm		p.E188*(2)|p.K187_E188>N*(2)|p.K187N(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						ATTAAAAAAGGAGGAACTCTT	0.388000														98			29		0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38845473	38845473	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:38845473C>T	uc003xmj.3	+	8	1402	c.1287C>T	c.(1285-1287)caC>caT	p.H429H		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	429	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TGAGAGATCACGATGTAATTG	0.358000														33			6		0	0	1	0	0
IRF7	3665	broad.mit.edu	37	11	615007	615007	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:615007C>T	uc001lqg.3	-	2	633	c.223_splice	c.e2-1	p.A75_splice	IRF7_uc009ycb.3_Intron|IRF7_uc010qwf.2_Splice_Site_p.A62_splice|IRF7_uc001lqf.3_Splice_Site|IRF7_uc010qwg.2_Splice_Site|IRF7_uc001lqh.3_Splice_Site_p.A62_splice|IRF7_uc001lqi.3_Splice_Site_p.A62_splice|IRF7_uc010qwh.2_Splice_Site	NM_004031	NP_004022	Q92985	IRF7_HUMAN	Homo sapiens interferon regulatory factor 7 (IRF7), transcript variant d, mRNA.	62					MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGCCCAGGCCTGAAGAGGG	0.741000														20			5		0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79385861	79385861	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:79385861C>T	uc002sod.2	-	1	459	c.111G>A	c.(109-111)cgG>cgA	p.R37R	REG3A_uc002soe.2_Silent_p.R37R|REG3A_uc002sof.2_Silent_p.R37R	NM_138938	NP_620355	Q06141	REG3A_HUMAN	Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA.	37					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GACAGCGGATCCGTGCAGAGG	0.547000														36			17		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211124	59211124	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:59211124C>T	uc001nnx.1	+	0	483	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCTCCCTGATCCAGGCCAGCT	0.557000														281			141		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10941027	10941027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:10941027C>T	uc002mpt.2	+	19	2706	c.2516C>T	c.(2515-2517)cCc>cTc	p.P839L	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Missense_Mutation_p.P839L|DNM2_uc010dxl.2_Missense_Mutation_p.P839L|DNM2_uc002mpu.2_Missense_Mutation_p.P835L|DNM2_uc002mpv.2_Missense_Mutation_p.P835L|DNM2_uc002mpw.3_Missense_Mutation_p.P568L|DNM2_uc002mpx.1_Missense_Mutation_p.P195L	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	839	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GTTCGGATCCCCCCAGGGATT	0.667000			"""F, N, Splice, Mis, O"""		ETP ALL									110			36		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64519574	64519574	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:64519574C>T	uc001xgl.3	+	47	9173	c.8943C>T	c.(8941-8943)atC>atT	p.I2981I	SYNE2_uc001xgm.3_Silent_p.I2981I|SYNE2_uc021ruh.1_Silent_p.I3014I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2981					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGAGGAGATCTATAATCTTA	0.348000														21			21		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107924162	107924162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:107924162G>A	uc022ccg.1	+	45	4265	c.4063G>A	c.(4063-4065)Gaa>Aaa	p.E1355K	COL4A5_uc004enz.1_Missense_Mutation_p.E1349K	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1349	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCCTGAGGGGGAACCGGGACT	0.438000									Alport syndrome with Diffuse Leiomyomatosis					99			60		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117676960	117676960	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:117676960G>A	uc004eqp.2	+	2	354	c.291G>A	c.(289-291)caG>caA	p.Q97Q		NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	97	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGAGGGCCCAGAGTTTATTTG	0.358000														62			14		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449716	138449716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:138449716C>T	uc003ihe.4	-	2	3043	c.2656G>A	c.(2656-2658)Gat>Aat	p.D886N	PCDH18_uc003ihf.4_Missense_Mutation_p.D878N|PCDH18_uc011cgz.2_Missense_Mutation_p.D97N|PCDH18_uc003ihg.4_Missense_Mutation_p.D665N|PCDH18_uc011cha.2_Missense_Mutation_p.D66N	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	886					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)					CGCCCCAAATCATAATCACTG	0.448000														262			64		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746538	95746538	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:95746538C>T	uc003kls.2	-	7	1274	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Silent_p.E298E	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	345	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.A344fs*90(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGAGCACTTCTCAGCGTACC	0.512000														148			95		0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728763	20728763	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:20728763G>A	uc002npa.3	-	3	426	c.246C>T	c.(244-246)gcC>gcT	p.A82A		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	82					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAAGATCTCGGGCAAAATGAG	0.323000														29			6		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110441663	110441663	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:110441663T>A	uc003yne.3	+	25	3199	c.3095T>A	c.(3094-3096)cTa>cAa	p.L1032Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1032					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTGGAGACCTACTTCGTACA	0.323000										HNSCC(38;0.096)				11			10		0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116633573	116633573	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:116633573G>A	uc001ppn.3	-	3	766	c.732C>T	c.(730-732)gtC>gtT	p.V244V	BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Silent_p.V244V	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	244	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		AGTTGTTATGGACCCTTCTGG	0.542000														231			43		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14849277	14849277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:14849277C>T	uc001rcd.3	-	0	243	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	GUCY2C_uc009zhz.2_Missense_Mutation_p.E36K	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	36					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACGCTGATTTCATAGCTGCCA	0.532000														20			15		0	0	1	0	0
MSRA	4482	broad.mit.edu	37	8	9912149	9912149	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:9912149G>A	uc003wsx.3	+	0	320	c.123G>A	c.(121-123)aaG>aaA	p.K41K	MSRA_uc011kwx.2_Silent_p.K41K	NM_012331	NP_001186658	Q9UJ68	MSRA_HUMAN	Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA.	41					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CGGGCCGGAAGGAACAGACCC	0.711000														41			6		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128532	152128532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:152128532C>T	uc001ezs.1	-	2	1108	c.1043G>A	c.(1042-1044)aGa>aAa	p.R348K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	348	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGGCCTTTTCTGTCCATTTG	0.493000														676			163		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119568000	119568000	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:119568000G>A	uc004bjt.2	-	11	2255	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F	ASTN2_uc022bml.1_Silent_p.F414F|ASTN2_uc022bmm.1_Silent_p.F418F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	769	EGF-like 3.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGGTATCATTGAATTTGGAGT	0.493000														103			77		0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541141	12541141	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:12541141C>T	uc002mtu.3	-	3	2043	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	615					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATACGGGTTCTCTC	0.403000														65			6		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153287	5153288	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:5153287_5153288GG>AT	uc010qyx.2	-	0	585_586	c.585_586CC>AT	c.(583-588)atccga>atATga	p.R196*		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTGTTGACTCGGATATCTTCAG	0.401000														124			44		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270359	84270359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:84270359C>T	uc010voc.2	-	1	854	c.733G>A	c.(733-735)Gac>Aac	p.D245N	KCNG4_uc002fhu.1_Missense_Mutation_p.D245N	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	245						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCCCTGAGGTCGGGCATGGTG	0.642000														59			15		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129207101	129207101	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:129207101C>T	uc003eml.3	+	17	2211	c.2005_splice	c.e17-1	p.S669_splice	IFT122_uc003emm.3_Splice_Site_p.S618_splice|IFT122_uc003emn.3_Splice_Site_p.S559_splice|IFT122_uc003emo.3_Splice_Site_p.S507_splice|IFT122_uc003emp.3_Splice_Site_p.S468_splice|IFT122_uc010htc.3_Splice_Site_p.S610_splice|IFT122_uc011bky.2_Splice_Site_p.S409_splice|IFT122_uc011bla.2_Splice_Site_p.S409_splice|IFT122_uc003emr.3_Splice_Site_p.S409_splice|IFT122_uc010hte.3_Splice_Site|IFT122_uc003ems.3_Missense_Mutation_p.S17F|IFT122_uc011bkx.1_Splice_Site_p.S458_splice|IFT122_uc011bkz.1_Splice_Site|IFT122_uc010htd.1_Splice_Site_p.S97_splice	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	618					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.S669F(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATCCTGCAGTCCGCTCCCATG	0.488000														46			12		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6026896	6026896	+	Silent	SNP	G	A	A	rs116094787	by1000genomes	TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:6026896G>A	uc003spl.3	-	10	1587	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	PMS2_uc003spj.3_Silent_p.S394S|PMS2_uc003spk.3_Silent_p.S365S|PMS2_uc011jwl.2_Silent_p.S365S|PMS2_uc010ktg.3_Silent_p.S189S|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Silent_p.S500S	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	500					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAGAATCCACGGAAGTGCTGC	0.627000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					92			50		0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405171	105405171	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:105405171G>A	uc003yly.4	-	7	1413	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	DPYS_uc010mcf.1_5'UTR	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	428					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCATGCCCTCGAAAATGTTGA	0.448000														131			27		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6371587	6371588	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:6371587_6371588GG>AA	uc002gdd.4	-	13	1998_1999	c.1847_1848CC>TT	c.(1846-1848)ccc>cTT	p.P616L	PITPNM3_uc010cln.3_Missense_Mutation_p.P580L|PITPNM3_uc010clm.3_Missense_Mutation_p.P99L|PITPNM3_uc002gdc.4_Missense_Mutation_p.P207L	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	616					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	p.P616F(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		ACTTCTCCCGGGGGTTGGCAGG	0.634000														39			27		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110453608	110453608	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:110453608G>A	uc003yne.3	+	34	4308	c.4204_splice	c.e34+1	p.V1402_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1402	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAAGATTCAGGTATCAGCCA	0.284000										HNSCC(38;0.096)				16			5		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227958860	227958860	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:227958860C>T	uc021vxr.1	-	18	1451	c.1350G>A	c.(1348-1350)caG>caA	p.Q450Q	COL4A4_uc021vxs.1_Silent_p.Q450Q	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	450	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGGAGGCCCTGCAGGCCTG	0.488000														76			12		0	0	1	0	0
SHMT2	6472	broad.mit.edu	37	12	57627354	57627354	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:57627354C>T	uc001snf.2	+	8	1238	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	SHMT2_uc001snh.2_Silent_p.T346T|SHMT2_uc009zpk.2_Silent_p.T334T|SHMT2_uc001sng.2_Silent_p.T240T|SHMT2_uc001sni.2_Silent_p.T323T|SHMT2_uc010srg.2_Silent_p.T353T|SHMT2_uc010srh.2_Silent_p.T323T|SHMT2_uc001snj.2_Silent_p.T248T|SHMT2_uc010sri.2_Silent_p.T323T|SHMT2_uc001snk.2_Silent_p.T248T|SHMT2_uc010srj.2_5'UTR	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	344						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGGCCTGCACCCCCATGTTCC	0.602000														80			19		0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120480083	120480083	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:120480083C>T	uc003vjk.3	-	2	521	c.147G>A	c.(145-147)acG>acA	p.T49T		NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	49					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AAGTATACCTCGTTTCTGCAG	0.358000														47			22		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935544	30935544	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:30935544T>C	uc002nsu.1	+	1	1213	c.1075T>C	c.(1075-1077)Ttc>Ctc	p.F359L	ZNF536_uc010edd.1_Missense_Mutation_p.F359L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCAGGCGTGGTTCCTCAAGGG	0.647000														193			50		0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57743497	57743497	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:57743497C>T	uc002qoe.3	+	2	390	c.201C>T	c.(199-201)ttC>ttT	p.F67F	AURKC_uc002qoc.3_Silent_p.F48F|AURKC_uc002qod.3_Silent_p.F33F|AURKC_uc010etv.3_Silent_p.F64F	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.	67	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	p.P67H(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AAAGCCATTTCATTGTGGCCC	0.542000														27			17		0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529463	80529463	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:80529463C>T	uc021vjt.1	-	0	1482	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Silent_p.P494P	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	494						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.P494P(3)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CAATGTGGTTCGGTTTGTAAT	0.547000										HNSCC(69;0.2)				48			19		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201195046	201195046	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:201195046T>A	uc001gwc.3	+	21	10711	c.10581T>A	c.(10579-10581)gaT>gaA	p.D3527E	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGCCCAGGATGTCCCGCTGC	0.682000														30			9		0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213341213	213341213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:213341213C>T	uc010ptr.2	+	6	1007	c.848C>T	c.(847-849)cCt>cTt	p.P283L	RPS6KC1_uc001hkd.3_Missense_Mutation_p.P271L|RPS6KC1_uc010pts.2_Missense_Mutation_p.P102L|RPS6KC1_uc010ptt.2_Missense_Mutation_p.P102L|RPS6KC1_uc010ptu.2_Missense_Mutation_p.P102L|RPS6KC1_uc010ptv.2_5'UTR|RPS6KC1_uc001hke.3_Missense_Mutation_p.P102L	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	283	MIT.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAGTCAAGCCCTACCCGTCGA	0.408000														30			16		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125154655	125154655	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:125154655G>A	uc004bmg.1	+	10	1767	c.1632G>A	c.(1630-1632)tgG>tgA	p.W544*	PTGS1_uc011lys.1_Nonsense_Mutation_p.W482*|PTGS1_uc010mwb.1_Nonsense_Mutation_p.W398*|PTGS1_uc004bmf.1_Nonsense_Mutation_p.W507*|PTGS1_uc004bmh.1_Nonsense_Mutation_p.W435*|PTGS1_uc011lyt.1_Nonsense_Mutation_p.W435*	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	544					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CGGAGTACTGGAAGCCGAGCA	0.527000														56			50		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16266988	16266988	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:16266988C>T	uc010gqp.2	-	8	1513	c.1461G>A	c.(1459-1461)agG>agA	p.R487R	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.R206R|POTEH_uc002zlj.1_Silent_p.R322R	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	487								p.R487K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCTGCTTTTCCTTGGTGGAA	0.433000														228			19		0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11944273	11944273	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:11944273A>T	uc001mjs.3	+	10	1984	c.1221A>T	c.(1219-1221)aaA>aaT	p.K407N	USP47_uc001mjq.1_Missense_Mutation_p.K427N|USP47_uc001mjr.3_Missense_Mutation_p.K339N	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	427					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTATTAAGAAATCTCCTCAGA	0.333000														16			17		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234901	8234901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:8234901C>T	uc003wsh.4	-	1	1018	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	340							ATP binding|non-membrane spanning protein tyrosine kinase activity										CAAGAGAGGCCGTCGGAAGAA	0.647000														15			5		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35763116	35763116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:35763116G>A	uc011axy.2	+	11	1125	c.913G>A	c.(913-915)Ggg>Agg	p.G305R	ARPP21_uc003cga.3_Missense_Mutation_p.G285R|ARPP21_uc003cgb.3_Missense_Mutation_p.G339R|ARPP21_uc003cgf.3_Missense_Mutation_p.G140R|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	339						cytoplasm	nucleic acid binding	p.E305G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGATGGCTCAGGGAGAACATC	0.537000														30			7		0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	1009160	1009160	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:1009160C>T	uc001lst.2	+	18	2697	c.2484C>T	c.(2482-2484)ttC>ttT	p.F828F	AP2A2_uc001lss.3_Silent_p.F827F	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	827					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAAATTCTTCCAGCCGACAG	0.542000														48			17		0	0	1	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112305454	112305454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:112305454C>T	uc001tta.3	+	3	524	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	MAPKAPK5_uc001tsz.3_Missense_Mutation_p.P89S	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 5 (MAPKAPK5), transcript variant 2, mRNA.	89	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						TGTCCAGTTTCCCCATGAGTC	0.458000														239			55		0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932812	148932812	+	RNA	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:148932812C>T	uc010pbc.1	+	1		c.127C>T			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		CCAAGCTAGCCCGCCAGGCCT	0.602000														278			11		0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113176007	113176007	+	Silent	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:113176007A>G	uc003eag.4	-	12	1924	c.1633T>C	c.(1633-1635)Tta>Cta	p.L545L	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Silent_p.L441L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	545					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GAGAATTTTAAGTTGCTCTTC	0.393000														90			16		0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80171622	80171622	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:80171622C>T	uc003kgz.3	+	23	3608	c.3355C>T	c.(3355-3357)Ctg>Ttg	p.L1119L		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	1119					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGCACAAGACCTGCAGAAGTG	0.338000								Mismatch excision repair (MMR)						30			25		0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7330628	7330628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:7330628C>T	uc002ggw.3	+	2	1391	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	440						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GGACCCTGCCCCTCCCCCGAC	0.642000														55			15		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800800	93800800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:93800800G>A	uc001pep.2	+	4	1104	c.947G>A	c.(946-948)aGa>aAa	p.R316K	AF086184_uc001pen.1_Non-coding_Transcript	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	316	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTCATCAGCAGAGGGCATCGG	0.463000														256			33		0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517507	75517507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:75517507C>T	uc003udw.1	+	3	1019	c.935C>T	c.(934-936)cCa>cTa	p.P312L	RHBDD2_uc003udv.1_Missense_Mutation_p.P171L	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	312						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CACTTTGGTCCAAACCCCACC	0.657000														231			105		0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48572951	48572951	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:48572951G>A	uc003ctv.3	-	8	998	c.981C>T	c.(979-981)atC>atT	p.I327I	PFKFB4_uc003ctx.3_Silent_p.I284I|PFKFB4_uc010hkb.3_Intron|PFKFB4_uc003ctw.3_Silent_p.I136I|PFKFB4_uc010hkc.3_Silent_p.I327I|PFKFB4_uc011bbm.2_Silent_p.I316I|PFKFB4_uc011bbn.1_Intron	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	327	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTACCGCATCGATCTCGTTGA	0.547000														29			7		0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132198296	132198296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:132198296C>T	uc011ecf.2	+	17	1908	c.1888C>T	c.(1888-1890)Cct>Tct	p.P630S	ENPP1_uc003qcy.3_Missense_Mutation_p.P260S	NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	630					3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CTCATGTAACCCTTCGGTAAG	0.433000														17			7		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824855	74824855	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:74824855T>C	uc021rwl.1	+	0	1369	c.1369T>C	c.(1369-1371)Tct>Cct	p.S457P	VRTN_uc001xpw.4_Missense_Mutation_p.S457P	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	457					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						ACCAGCCCTCTCTGCTGCTGG	0.592000														35			40		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66871523	66871523	+	Silent	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:66871523T>C	uc002jhq.3	-	36	4849	c.4509A>G	c.(4507-4509)caA>caG	p.Q1503Q	ABCA8_uc002jhp.3_Silent_p.Q1463Q|ABCA8_uc010wqq.2_Silent_p.Q1498Q	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1463						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)					TTTTCAGGTGTTGGATGGAAC	0.438000														50			17		0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478971	79478971	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:79478971C>T	uc002kak.2	-	2	579	c.321G>A	c.(319-321)gaG>gaA	p.E107E	ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Silent_p.E107E|ACTG1_uc021ufb.1_5'Flank	NM_001199954	NP_001186883	P63261	ACTG_HUMAN	Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.	107					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TCAGGGGGGCCTCGGTCAGCA	0.632000														49			25		0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41816412	41816412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:41816412G>A	uc001zod.3	-	15	2240	c.2116C>T	c.(2116-2118)Ccg>Tcg	p.P706S		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	706						nucleus	DNA binding|DNA-directed RNA polymerase activity	p.P706L(1)		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)		AGCTCCCGCGGCACCACCTGC	0.592000														47			38		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52552608	52552608	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:52552608T>A	uc003dej.3	+	46	4940	c.4866T>A	c.(4864-4866)gaT>gaA	p.D1622E	STAB1_uc003dek.1_5'Flank|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1622	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGCACGCAGATCTAATGAGCA	0.622000														5			4		0	0	1	0	0
ACTL6A	86	broad.mit.edu	37	3	179298431	179298431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:179298431G>A	uc003fjw.3	+	8	945	c.772G>A	c.(772-774)Gtt>Att	p.V258I	ACTL6A_uc003fjx.3_Missense_Mutation_p.V216I|ACTL6A_uc003fjy.3_Missense_Mutation_p.V216I	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	258					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	ATP binding|chromatin binding	p.C257R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CTCACAGTGTGTTATCCAGGA	0.264000														21			5		0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42734255	42734255	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:42734255C>T	uc003clw.3	-	12	1650	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E	HHATL_uc003clx.3_Silent_p.E501E	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	501					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		p.E501G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ACTCCGGCTTCTCTTTGTCCT	0.552000														38			10		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2613675	2613675	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:2613675T>C	uc001qkm.2	+	7	1500	c.1187T>C	c.(1186-1188)gTt>gCt	p.V396A	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkj.2_Missense_Mutation_p.V396A|CACNA1C_uc001qkk.2_Missense_Mutation_p.V396A|CACNA1C_uc001qkn.2_Missense_Mutation_p.V396A|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdu.1_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.V132A|CACNA1C_uc009zdy.1_Missense_Mutation_p.V21A|CACNA1C_uc001qkv.1_5'Flank	NM_001167625	NP_001161097	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 23, mRNA.	396					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCTTTTTCGTTCTAAATCTG	0.488000														96			47		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683411	100683411	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:100683411A>C	uc003uxp.1	+	2	8767	c.8714A>C	c.(8713-8715)gAa>gCa	p.E2905A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2905	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)					ACTTCTACTGAAGGCAGTTCT	0.483000														386			155		0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889966	89889966	+	RNA	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:89889966C>T	uc009wcy.1	+	4		c.707C>T								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		CGACAGGGTCCAGTTGCTGGA	0.453000														198			48		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116675502	116675502	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:116675502G>A	uc001tvw.3	-	1	136	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	27					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGATTCCCGTGAGTTCAGCCT	0.398000														53			16		0	0	1	0	0
C11orf1	64776	broad.mit.edu	37	11	111753237	111753237	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:111753237A>G	uc001pme.3	+	1	986	c.311A>G	c.(310-312)tAt>tGt	p.Y104C	C11orf1_uc001pmd.3_Missense_Mutation_p.Y64C	NM_022761	NP_073598	Q9H5F2	CK001_HUMAN	Homo sapiens chromosome 11 open reading frame 1 (C11orf1), mRNA.	64						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		GAGAATACCTATTCAAACCGT	0.448000														56			20		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5772951	5772951	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:5772951G>C	uc002mda.3	+	19	1977	c.1916G>C	c.(1915-1917)gGg>gCg	p.G639A		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	639						integral to membrane											AAGGAATTCGGGGGGCCCTTC	0.577000														34			11		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792332	143792332	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:143792332C>T	uc011kty.2	+	0	132	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ATGGGATTATCCTGGGGCTCA	0.498000														116			48		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53190854	53190854	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:53190854A>C	uc002ehb.3	+	0	1017	c.853A>C	c.(853-855)Agt>Cgt	p.S285R	CHD9_uc002egy.3_Missense_Mutation_p.S285R|CHD9_uc002egz.1_Missense_Mutation_p.S285R|CHD9_uc002ehc.3_Missense_Mutation_p.S285R	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	285	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATCACCAAACAGTCTACTTCA	0.343000														119			24		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122318444	122318444	+	Silent	SNP	C	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:122318444C>A	uc004etq.4	+	0	349	c.57C>A	c.(55-57)gtC>gtA	p.V19V	GRIA3_uc004etr.4_Silent_p.V19V|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_5'Flank|GRIA3_uc010nqs.2_Silent_p.V19V	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	19					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCTTTTTAGTCCTGGGGCTTT	0.577000														154			34		1.23103e-26	1.27069e-26	1	1	0
PYGL	5836	broad.mit.edu	37	14	51398425	51398425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:51398425C>T	uc001wyu.3	-	3	621	c.494G>A	c.(493-495)gGg>gAg	p.G165E	PYGL_uc010tqq.2_Missense_Mutation_p.G131E|PYGL_uc001wyw.4_Missense_Mutation_p.G165E	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	165					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ATTGAAAATCCCATATTCATA	0.438000														59			50		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134074112	134074112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:134074112C>T	uc004cag.3	+	28	5342	c.5231C>T	c.(5230-5232)tCc>tTc	p.S1744F	NUP214_uc004cah.3_Missense_Mutation_p.S1734F|NUP214_uc004cai.3_Missense_Mutation_p.S1174F|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.S570F|NUP214_uc011mcf.1_Missense_Mutation_p.S521F|NUP214_uc010mzh.1_Missense_Mutation_p.S258F|NUP214_uc010mzi.1_Missense_Mutation_p.S258F	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1744	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTGTCTTTTCCTTCAGTCAG	0.587000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									47			54		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851264	43851264	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:43851264A>G	uc010ggz.3	+	1	1048	c.991A>G	c.(991-993)Aca>Gca	p.T331A	SEMG2_uc002xnk.3_Missense_Mutation_p.T331A|SEMG2_uc002xnl.3_Missense_Mutation_p.T331A	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	331	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAACCAGGTAACAATTCATAG	0.373000														76			51		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93148277	93148277	+	Silent	SNP	A	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:93148277A>T	uc001pdq.3	+	12	1735	c.1635A>T	c.(1633-1635)ccA>ccT	p.P545P	CCDC67_uc001pdo.1_Silent_p.P545P	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	545										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ATGTATTCCCACTGGTGAGTT	0.403000														80			14		0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41128920	41128920	+	Missense_Mutation	SNP	C	T	T	rs34051360		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:41128920C>T	uc002ooh.1	+	27	3748	c.3748C>T	c.(3748-3750)Cgg>Tgg	p.R1250W	LTBP4_uc002oog.1_Missense_Mutation_p.R1213W|LTBP4_uc002ooi.1_Missense_Mutation_p.R1183W|LTBP4_uc002ooj.1_Missense_Mutation_p.R124W|LTBP4_uc002ook.1_Missense_Mutation_p.R385W|LTBP4_uc002ool.1_Missense_Mutation_p.R263W|LTBP4_uc010xvp.1_Intron	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1251					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGAGCCTCCGGAGAGGTGA	0.602000														16			12		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21789345	21789345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:21789345C>T	uc003svc.3	+	53	8775	c.8744C>T	c.(8743-8745)aCt>aTt	p.T2915I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2915	AAA 4 (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						AACATGCCCACTGTGTTCCTG	0.453000									Kartagener syndrome					55			23		0	0	1	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105948468	105948468	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:105948468G>C	uc001pjc.1	+	0	177	c.31G>C	c.(31-33)Gtg>Ctg	p.V11L	KBTBD3_uc001pja.3_5'Flank|KBTBD3_uc001pjb.3_5'Flank|KBTBD3_uc009yxm.3_5'Flank|AASDHPPT_uc010rvn.1_Non-coding_Transcript	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT), mRNA.	11					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GTTCTGCTTGGTGCCATCCAT	0.642000														140			21		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903562	5903562	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:5903562C>T	uc002wmg.3	+	3	1078	c.772C>T	c.(772-774)Cga>Tga	p.R258*	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	258						extracellular region	hormone activity	p.R258Q(3)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGGCCAACCCCGAAGCCAGGA	0.587000														14			7		0	0	1	0	0
ALG14	199857	broad.mit.edu	37	1	95538376	95538376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:95538376G>A	uc001dra.2	-	0	132	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	Homo sapiens asparagine-linked glycosylation 14 homolog (S. cerevisiae) (ALG14), mRNA.	27					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TCCATGGAACGAAGCACTACC	0.572000														98			59		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86479783	86479783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:86479783C>T	uc003uid.3	+	4	3588	c.2489C>T	c.(2488-2490)cCc>cTc	p.P830L	GRM3_uc010lef.3_Silent_p.T472T|GRM3_uc010leg.3_Missense_Mutation_p.P702L|GRM3_uc010leh.3_Missense_Mutation_p.P422L	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	830					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTGTTTCAACCCCAGAAGAAT	0.488000														89			32		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8620237	8620237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:8620237C>T	uc003glm.3	+	9	1759	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.R518C|CPZ_uc003gln.3_Missense_Mutation_p.R392C	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	529					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAAGGCATTCGCCACGACAT	0.597000														26			33		0	0	1	0	0
RALA	5898	broad.mit.edu	37	7	39729990	39729990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:39729990G>A	uc003thd.3	+	2	434	c.124G>A	c.(124-126)Gac>Aac	p.D42N		NM_005402	NP_005393	P11233	RALA_HUMAN	Homo sapiens v-ral simian leukemia viral oncogene homolog A (ras related) (RALA), mRNA.	42					Ras protein signal transduction|actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GTTTGTGGAGGACTATGAGCC	0.368000														84			9		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3097837	3097837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:3097837C>T	uc003bpc.3	+	24	3353	c.3014C>T	c.(3013-3015)tCg>tTg	p.S1005L	CNTN4_uc021wsg.1_Missense_Mutation_p.S1005L|CNTN4_uc003bpe.3_Missense_Mutation_p.S677L|CNTN4_uc003bpf.3_Missense_Mutation_p.S676L|CNTN4_uc003bpg.3_Missense_Mutation_p.S261L	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	1005					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.S1005L(1)|p.S677L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCTTCCACTTCGAATGCATGT	0.468000														65			25		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857538	9857538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:9857538C>T	uc010uym.2	-	13	4173	c.3863G>A	c.(3862-3864)cGt>cAt	p.R1288H	GRIN2A_uc002czo.4_Missense_Mutation_p.R1288H|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1288					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			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)	GGAATGCTGACGGCTAATCCT	0.537000														72			16		0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8125961	8125961	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:8125961C>T	uc003srk.3	+	7	1996	c.1437C>T	c.(1435-1437)aaC>aaT	p.N479N		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	479										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TGCTCAAGAACTCCCCTAACT	0.493000														362			59		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92380915	92380915	+	Silent	SNP	A	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:92380915A>C	uc010tif.2	+	3	1516	c.1150A>C	c.(1150-1152)Aga>Cga	p.R384R		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	384						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGCCAACAGAAGAAAGTAAGA	0.363000														57			24		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146700595	146700595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:146700595G>A	uc003ikn.3	-	8	2500	c.2452C>T	c.(2452-2454)Ccc>Tcc	p.P818S	ZNF827_uc003ikm.3_Missense_Mutation_p.P818S|ZNF827_uc010iox.3_Missense_Mutation_p.P468S|ZNF827_uc003ikl.3_5'UTR	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACGTCACAGGGAAAAAGCTGG	0.493000														50			19		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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					76			43		0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129916533	129916533	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:129916533C>T	uc003vpq.3	+	6	670	c.651C>T	c.(649-651)ctC>ctT	p.L217L	CPA2_uc011kpc.1_Silent_p.L217L	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	217					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	p.L216L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ATATCTTCCTCCTGCCAGTCA	0.443000														128			64		0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88091750	88091750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:88091750G>A	uc011cdb.1	-	6	1611	c.1226C>T	c.(1225-1227)gCt>gTt	p.A409V	KLHL8_uc003hql.1_Missense_Mutation_p.A409V|KLHL8_uc003hqm.1_Missense_Mutation_p.A333V|KLHL8_uc003hqn.1_Missense_Mutation_p.A226V|KLHL8_uc010ikj.1_Missense_Mutation_p.A58V	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	409										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TCCTAAGGAAGCCAAGGCAAT	0.368000														52			13		0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58348419	58348419	+	Silent	SNP	G	A	A	rs146810775		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:58348419G>A	uc002yau.3	+	5	1304	c.837G>A	c.(835-837)ccG>ccA	p.P279P	PHACTR3_uc002yat.3_Silent_p.P276P|PHACTR3_uc010zzw.2_Silent_p.P238P|PHACTR3_uc002yav.3_Silent_p.P238P|PHACTR3_uc002yaw.3_Silent_p.P238P|PHACTR3_uc002yax.3_Silent_p.P168P	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	279						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.S278Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CGGGGTCTCCGCATCTCACCA	0.677000														102			23		0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94482702	94482702	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:94482702G>A	uc001vlt.3	+	2	1247	c.615G>A	c.(613-615)cgG>cgA	p.R205R	GPC6_uc010tig.1_Silent_p.R205R|GPC6_uc001vlu.1_Silent_p.R135R	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	205						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P204H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ACGTGCCCCGGAAACTGAAGA	0.502000														47			16		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49672234	49672234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:49672234C>T	uc002efs.3	-	4	1127	c.829G>A	c.(829-831)Gag>Aag	p.E277K	ZNF423_uc010vgn.2_Missense_Mutation_p.E160K	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	277					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E277K(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTCTCCAGCTCCTCCGTCTGG	0.582000														37			20		0	0	1	0	0
EMID2	136227	broad.mit.edu	37	7	101187320	101187320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:101187320C>T	uc010lhy.1	+	5	832	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	EMID2_uc003uyo.1_Missense_Mutation_p.P216S	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	216	Collagen-like 1.					collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					TGCAGGCCCCCCCGGGTCTAA	0.647000														16			6		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86887260	86887260	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:86887260A>C	uc004efa.2	+	6	1557	c.1375A>C	c.(1375-1377)Att>Ctt	p.I459L	KLHL4_uc004efb.2_Missense_Mutation_p.I459L	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	459						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTGGCTACATATTGGCACCAT	0.378000														43			25		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27284167	27284167	+	Missense_Mutation	SNP	C	T	T	rs140304729		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:27284167C>T	uc002ylz.3	-	13	1995	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	APP_uc011acg.2_Missense_Mutation_p.E107K|APP_uc010glk.3_Missense_Mutation_p.E575K|APP_uc002yma.3_Missense_Mutation_p.E580K|APP_uc011ach.2_Missense_Mutation_p.E543K|APP_uc021whz.1_Missense_Mutation_p.E599K|APP_uc021wia.1_Missense_Mutation_p.E580K|APP_uc002ymb.3_Missense_Mutation_p.E524K|APP_uc010glj.3_Missense_Mutation_p.E468K|APP_uc021wib.1_Missense_Mutation_p.E524K|APP_uc011aci.2_Missense_Mutation_p.E489K	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	599					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GTTTTCGTTTCGGTCAAAGAT	0.502000														52			22		0	0	1	0	0
FAS	355	broad.mit.edu	37	10	90767594	90767594	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:90767594G>A	uc001kfr.3	+	3	680	c.334_splice	c.e3+1	p.G112_splice	FAS_uc010qna.2_Splice_Site|FAS_uc001kft.3_Splice_Site_p.G112_splice|FAS_uc010qnb.2_Splice_Site|FAS_uc001kfs.3_Splice_Site_p.G112_splice|FAS_uc010qnc.2_Splice_Site|FAS_uc010qnd.2_Intron|FAS_uc010qne.2_Intron|FAS_uc001kfw.3_Splice_Site_p.D112_splice|FAS_uc009xtp.3_Splice_Site	NM_000043	NP_000034	P25445	TNR6_HUMAN	Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA.	112					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TGAAGGACATGGTAAGAGTCT	0.413000														51			47		0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10404880	10404880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:10404880G>A	uc002mnu.4	+	7	1941	c.1876G>A	c.(1876-1878)Gac>Aac	p.D626N	ICAM5_uc002mnv.4_Missense_Mutation_p.D501N	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	626	Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGCACCCCCAGACCCTAGTCC	0.647000														101			58		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34011783	34011783	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:34011783G>T	uc001bxm.1	-	56	9131	c.8954C>A	c.(8953-8955)cCg>cAg	p.P2985Q	CSMD2_uc001bxn.1_Missense_Mutation_p.P2841Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2958	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCATGAGCCGGGATCCCAGG	0.572000														32			17		7.41877e-09	7.5675e-09	1	1	0
SSPO	23145	broad.mit.edu	37	7	149474717	149474717	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:149474717C>T	uc010lpk.3	+	4	516	c.516C>T	c.(514-516)gcC>gcT	p.A172A	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	172					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTCTCCAGCCCTCCTGCAGC	0.672000														32			12		0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127422297	127422297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:127422297C>T	uc001liq.1	+	10	1663	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V	C10orf137_uc001lin.3_Missense_Mutation_p.A423V|C10orf137_uc001lip.1_Missense_Mutation_p.A161V|C10orf137_uc001lio.1_Missense_Mutation_p.A423V|C10orf137_uc001lir.3_5'Flank	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATGCCGGTAGCCATTCTCTTG	0.373000														26			26		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632379	143632379	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:143632379C>T	uc011ktv.2	+	0	54	c.54C>T	c.(52-54)tcC>tcT	p.S18S		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTGGCTTATCCAGTGACTGGT	0.413000														184			71		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50051624	50051624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:50051624C>T	uc004dox.4	+	5	753	c.455C>T	c.(454-456)tCt>tTt	p.S152F	CCNB3_uc004doy.3_Missense_Mutation_p.S152F|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	152					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAGGAGGCATCTCTCTTCAGA	0.408000														49			16		0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50498357	50498357	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:50498357G>A	uc001rvz.3	+	2	75	c.42_splice	c.e2-1	p.W14_splice	GPD1_uc010smp.1_Splice_Site_p.W14_splice|GPD1_uc001rwa.3_Splice_Site_p.W14_splice	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	14					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CTCCCACCAGGGGCTCAGCCA	0.622000														67			51		0	0	1	0	0
C17orf67	339210	broad.mit.edu	37	17	54893238	54893238	+	Silent	SNP	A	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:54893238A>C	uc010dci.3	-	0	134	c.6T>G	c.(4-6)gcT>gcG	p.A2A	C17orf67_uc002iuq.3_Non-coding_Transcript	NM_001085430	NP_001078899	Q0P5P2	CQ067_HUMAN	Homo sapiens chromosome 17 open reading frame 67 (C17orf67), mRNA.	2						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					ACTTGAAGGAAGCCATGCCAG	0.493000														64			16		0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50616039	50616039	+	Nonsense_Mutation	SNP	G	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:50616039G>C	uc001rwj.4	-	3	569	c.395C>G	c.(394-396)tCa>tGa	p.S132*	LIMA1_uc001rwh.4_5'UTR|LIMA1_uc001rwi.4_5'UTR|LIMA1_uc001rwk.4_Nonsense_Mutation_p.S132*|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	132					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTCAGGAGGTGACCTGAGTCT	0.488000														51			44		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72863752	72863752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:72863752G>A	uc002fck.3	-	4	4128	c.3455C>T	c.(3454-3456)gCc>gTc	p.A1152V	ZFHX3_uc002fcl.3_Missense_Mutation_p.A238V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1152				EEAIEDVEGPSETAADPEELAKDQEGGASSSQAEKELTDSP -> GEWSHRHGRPRLGLGVHLLETSRGLLFEGDVTDPAGPH VPY (in Ref. 5).	muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCTTCAATGGCTTCTTCTGA	0.458000														60			15		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119031753	119031753	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:119031753C>T	uc001pvs.3	+	14	2214	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	ABCG4_uc009zar.3_Silent_p.F626F	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	626	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGGCATCTTCTTCCTAGCCC	0.612000														70			27		0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156267	146156267	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:146156267T>C	uc003zet.3	-	3	2093	c.1906A>G	c.(1906-1908)Aaa>Gaa	p.K636E	ZNF16_uc003zeu.3_Missense_Mutation_p.K636E	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTGAAGGCTTTCCCACACTCA	0.552000														95			24		0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33769194	33769194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:33769194C>T	uc002hjk.1	-	2	1640	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E	SLFN13_uc010wch.1_Missense_Mutation_p.G437E|SLFN13_uc002hjl.2_Missense_Mutation_p.G437E|SLFN13_uc002hjm.2_Missense_Mutation_p.G106E|SLFN13_uc010ctt.2_Missense_Mutation_p.G119E	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	437						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GATCACAATTCCCTGGGAGAA	0.498000														43			16		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75097441	75097441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:75097441G>A	uc001dgg.3	-	6	994	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	C1orf173_uc001dgi.4_Missense_Mutation_p.R53C	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	259	Poly-Arg.							p.R259H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGGTTGGACGAAATCTTCTC	0.363000														62			38		0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20454681	20454681	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:20454681T>G	uc002rds.1	-	17	2831	c.2813A>C	c.(2812-2814)aAa>aCa	p.K938T	PUM2_uc002rdq.1_Missense_Mutation_p.K317T|PUM2_uc002rdt.1_Missense_Mutation_p.K938T|PUM2_uc002rdr.2_Missense_Mutation_p.K798T|PUM2_uc010yjy.1_Missense_Mutation_p.K859T|PUM2_uc002rdu.1_Missense_Mutation_p.K938T|PUM2_uc010yjz.1_Missense_Mutation_p.K877T	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	940	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAACAATTTTGCTCTTGTC	0.363000														67			8		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810601	123810601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:123810601C>T	uc001pzk.1	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I92I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTACCATTTCCTTTGGTGGA	0.468000														65			36		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237580394	237580394	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:237580394C>T	uc001hyl.1	+	10	939	c.819C>T	c.(817-819)tcC>tcT	p.S273S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	273	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L272L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCACGTTCCCTTTGGAGAC	0.418000														53			11		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051434	38051434	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:38051434C>T	uc003gtb.3	+	10	2183	c.1825C>T	c.(1825-1827)Caa>Taa	p.Q609*	TBC1D1_uc011byd.2_Nonsense_Mutation_p.Q609*|TBC1D1_uc010ifd.3_Nonsense_Mutation_p.Q356*|TBC1D1_uc011byf.1_Nonsense_Mutation_p.Q480*	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	609						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGAACCTCCACAACCTGCCCG	0.557000														72			72		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76427269	76427269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:76427269C>T	uc021rkq.1	+	27	4741	c.4406C>T	c.(4405-4407)tCt>tTt	p.S1469F	LMO7_uc010thv.2_Missense_Mutation_p.S1187F|LMO7_uc001vjv.3_Missense_Mutation_p.S1236F|LMO7_uc010thw.2_Missense_Mutation_p.S1113F	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1521						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CGATCCAATTCTTGGAGACAG	0.448000														56			8		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431951	140431951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:140431951G>A	uc003lik.1	+	0	973	c.896G>A	c.(895-897)gGa>gAa	p.G299E		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	299	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCAAAATGGAGAAGTTCGA	0.468000														23			33		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38662381	38662381	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:38662381G>A	uc021wvo.1	-	3	616	c.564C>T	c.(562-564)ttC>ttT	p.F188F	SCN5A_uc021wvk.1_Silent_p.F188F|SCN5A_uc021wvl.1_Silent_p.F188F|SCN5A_uc021wvm.1_Silent_p.F188F|SCN5A_uc021wvn.1_Silent_p.F188F|SCN5A_uc021wvp.1_Silent_p.F188F|SCN5A_uc021wvq.1_Silent_p.F188F|SCN5A_uc021wvr.1_Silent_p.F188F|SCN5A_uc021wvs.1_Silent_p.F188F|SCN5A_uc021wvt.1_Silent_p.F188F|SCN5A_uc021wvu.1_Silent_p.F188F|SCN5A_uc021wvv.1_Silent_p.F188F|SCN5A_uc021wvj.1_Silent_p.F54F|SCN5A_uc021wvi.1_Silent_p.F54F|SCN5A_uc010hhl.1_Intron	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	188					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGTCCCGAAGGAAAGTGAACG	0.537000														11			6		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894575	166894575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:166894575G>A	uc002udo.4	-	16	2884	c.2657C>T	c.(2656-2658)tCc>tTc	p.S886F	SCN1A_uc010fpk.3_Missense_Mutation_p.S858F|SCN1A_uc021vsb.1_Missense_Mutation_p.S875F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	886						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGCCCCCACGGAATTGCCGAT	0.408000														52			33		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254832	3254832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:3254832G>A	uc010uwu.2	+	0	586	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196*(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ACACCTCAATGAGGTCATAAT	0.502000														100			26		0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588678	72588678	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:72588678A>T	uc002jla.1	+	2	855	c.493A>T	c.(493-495)Agc>Tgc	p.S165C	CD300LD_uc002jkz.2_5'Flank|C17orf77_uc021ucq.1_Missense_Mutation_p.S165C	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	165						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AGCATTGAGGAGCTGCGGGAT	0.582000														16			8		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94278084	94278084	+	Silent	SNP	G	A	A	rs142378017		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:94278084G>A	uc003kkx.2	-	3	1029	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	MCTP1_uc003kkv.2_Silent_p.A122A|MCTP1_uc003kkw.2_Silent_p.A122A|MCTP1_uc003kkz.2_Silent_p.A4A	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	343	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GATCCAGAAAGGCTGAGCCCA	0.388000														31			29		0	0	1	0	0
NGFRAP1	27018	broad.mit.edu	37	X	102632525	102632525	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:102632525C>T	uc004eki.3	+	2	488	c.106C>T	c.(106-108)Cga>Tga	p.R36*	NGFRAP1_uc004ekh.3_Nonsense_Mutation_p.R26*|NGFRAP1_uc004ekj.1_Nonsense_Mutation_p.R36*	NM_206915	NP_996800	Q00994	BEX3_HUMAN	Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1), transcript variant 2, mRNA.	36					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGCAGGAAATCGACGGGGACA	0.522000														258			58		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9016586	9016586	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:9016586G>A	uc001quz.4	+	28	3797	c.3699G>A	c.(3697-3699)ggG>ggA	p.G1233G	A2ML1_uc001qva.1_Silent_p.G813G|A2ML1_uc010sgm.2_Silent_p.G733G	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	1077						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATGCATATGGGGGCTTCTCTT	0.483000														38			8		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928438	137928438	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:137928438C>T	uc002tva.1	+	5	1560	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.I410I	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											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)		CAGAAGGGATCTGTTTCCCTG	0.527000														49			24		0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74128540	74128540	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:74128540C>T	uc002sjw.3	+	1	224	c.102C>T	c.(100-102)tcC>tcT	p.S34S	ACTG2_uc010fex.1_Silent_p.S34S|ACTG2_uc010yrn.2_Silent_p.S34S|ACTG2_uc010fey.3_Silent_p.S34S	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	34					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TCTTCCCCTCCATTGTGGGCC	0.622000														85			32		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34778703	34778703	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:34778703C>T	uc002xfb.3	+	10	1455	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	EPB41L1_uc002xeu.3_Silent_p.S366S|EPB41L1_uc010zvo.1_Silent_p.S428S|EPB41L1_uc002xev.3_Silent_p.S428S|EPB41L1_uc002xew.3_Silent_p.S331S|EPB41L1_uc002xex.3_Silent_p.S397S|EPB41L1_uc002xey.3_Silent_p.S355S|EPB41L1_uc002xez.3_Silent_p.S366S	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	428					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ACACCATGTCCCGCAGCCTTG	0.607000														60			30		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19746293	19746293	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:19746293C>T	uc002nnd.3	-	14	1608	c.1491G>A	c.(1489-1491)cgG>cgA	p.R497R	GMIP_uc010xrb.2_Silent_p.R471R|GMIP_uc010xrc.2_Silent_p.R468R	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	497					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCGCAGTCGCCGCAGCTGGT	0.652000														80			18		0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54966808	54966808	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:54966808C>T	uc002ehv.3	+	1	648	c.648C>T	c.(646-648)ccC>ccT	p.P216P	IRX5_uc010cca.1_Silent_p.P268P|IRX5_uc021tin.1_Silent_p.P216P|IRX5_uc002ehw.3_Silent_p.P150P	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	216					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCGAGGGCCCCGAAGCAGGTT	0.647000														72			46		0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10671070	10671070	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:10671070G>A	uc002moy.1	-	8	745	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Silent_p.L242L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	246	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TAATCCCGCAGGAACCGCTCC	0.547000														90			17		0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563660	75563660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:75563660G>A	uc002fej.1	-	4	962	c.641C>T	c.(640-642)cCg>cTg	p.P214L	CHST5_uc002fei.3_Missense_Mutation_p.P208L|CHST5_uc021tlk.1_Missense_Mutation_p.P208L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	208					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.P213P(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCTGAGCAGCGGGTAGAGCAC	0.711000														60			50		0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176963397	176963397	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:176963397G>A	uc003mhu.3	-	3	1127	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	FAM193B_uc003mht.3_5'UTR|FAM193B_uc003mhv.3_5'UTR|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	22										kidney(1)|large_intestine(3)	4						TCGGGGGTGGGAGGAGAGGCC	0.592000														14			14		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962508	69962508	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:69962508C>T	uc003heg.4	+	0	316	c.270C>T	c.(268-270)atC>atT	p.I90I	UGT2B7_uc010ihq.3_Silent_p.I90I	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	90					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAATTTCATCATGCAACAGA	0.333000														80			7		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071290	240071290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:240071290G>A	uc021plc.1	+	0	539	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	CHRM3_uc001hyp.3_Missense_Mutation_p.R180Q	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	180					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CGAGCCAAACGAACAACAAAG	0.488000														126			59		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58209070	58209070	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:58209070A>T	uc001vhq.1	+	0	3282	c.2390A>T	c.(2389-2391)tAc>tTc	p.Y797F	PCDH17_uc010aec.1_Missense_Mutation_p.Y797F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	797					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)		TCCCCCATGTACTTCGACTAC	0.602000														24			7		0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387448	46387448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:46387448G>A	uc002pds.1	-	0	1929	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	529	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGGGAGCAGGGAAAGCAGAAC	0.692000														59			15		0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80646712	80646712	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:80646712G>A	uc002ffs.3	-	4	1134	c.1029C>T	c.(1027-1029)atC>atT	p.I343I		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	343						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCTTAAACTGGATAAAGGCCT	0.562000														26			20		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114372594	114372594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:114372594G>A	uc001eds.3	-	16	2241	c.2111C>T	c.(2110-2112)tCc>tTc	p.S704F	PTPN22_uc021orx.1_Missense_Mutation_p.S676F|PTPN22_uc009wgq.3_Missense_Mutation_p.S649F|PTPN22_uc021ory.1_Missense_Mutation_p.S680F|PTPN22_uc010owo.2_Missense_Mutation_p.S460F|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.S704F|PTPN22_uc009wgs.2_Missense_Mutation_p.S577F	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	704					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		AAGAAAGAAGGACTCTAGAGT	0.348000														67			19		0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72400636	72400636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:72400636G>A	uc003twk.2	+	4	1262	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q	POM121_uc003twj.3_Missense_Mutation_p.R156Q|POM121_uc010lam.1_Missense_Mutation_p.R156Q	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	421	Pore side (Potential).|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGCTCCACTCGAGGCATCTCA	0.517000														234			108		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145755806	145755806	+	Nonstop_Mutation	SNP	C	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:145755806C>A	uc003zds.1	-	12	3900	c.3345G>T	c.(3343-3345)taG>taT	p.*1115Y	C8orf82_uc003zdp.1_5'Flank|C8orf82_uc003zdq.1_5'Flank|ARHGAP39_uc011llk.1_Nonstop_Mutation_p.*1084Y|ARHGAP39_uc003zdt.1_Nonstop_Mutation_p.*1084Y	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	0					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGCGCCCCCGCTACAGCACAC	0.687000														22			7		0.000274275	0.000276513	1	1	0
ANO2	57101	broad.mit.edu	37	12	5939646	5939646	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:5939646G>A	uc001qnm.2	-	5	855	c.783C>T	c.(781-783)atC>atT	p.I261I	ANO2_uc021qtt.1_Silent_p.I265I	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	266						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCTTTTCCTGGATGTTGTACC	0.478000														21			5		0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358763	178358763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:178358763G>A	uc003mjn.1	+	4	958	c.449G>A	c.(448-450)aGa>aAa	p.R150K	ZFP2_uc010jky.2_Missense_Mutation_p.R150K|ZFP2_uc010jkx.1_Missense_Mutation_p.R150K|ZFP2_uc021yjb.1_Missense_Mutation_p.R150K	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R150I(4)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTACATCAAAGAATTCATACT	0.413000														39			15		0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:90126823T>G	uc010cje.3	-	8	1179	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_uc002fqo.3_Intron|PRDM7_uc010cjf.3_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.M181L	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000														127			6		0	0	1	0	0
HOXD13	3239	broad.mit.edu	37	2	176958158	176958158	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:176958158C>T	uc002ukf.1	+	0	627	c.540C>T	c.(538-540)gcC>gcT	p.A180A		NM_000523	NP_000514	P35453	HXD13_HUMAN	Homo sapiens homeobox D13 (HOXD13), mRNA.	180					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GCGTACCGGCCAACGAGGTGC	0.612000			T	NUP98	AML*									63			29		0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32546361	32546361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:32546361G>A	uc003amd.3	-	6	640	c.599C>T	c.(598-600)tCa>tTa	p.S200L		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	200										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ACTGAGACCTGATGTCATGAA	0.433000														195			65		0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120204447	120204447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:120204447G>A	uc002tma.3	-	10	1254	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	SCTR_uc002tlz.3_Missense_Mutation_p.S165F	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	343					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CAGGAGAGTGGACCTGGCCAG	0.592000														75			44		0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6653691	6653691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:6653691G>A	uc001aoa.3	-	3	1580	c.1528C>T	c.(1528-1530)Ctt>Ttt	p.L510F	KLHL21_uc001anz.1_3'UTR|KLHL21_uc009vme.3_Missense_Mutation_p.L143F	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	Homo sapiens kelch-like 21 (Drosophila) (KLHL21), mRNA.	510					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule		p.V509I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		TTCCCCCCAAGGACGGCCAGG	0.617000														62			12		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587645	247587645	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:247587645C>T	uc001icr.3	+	4	1038	c.900C>T	c.(898-900)ctC>ctT	p.L300L	NLRP3_uc001ics.3_Silent_p.L300L|NLRP3_uc001icu.3_Silent_p.L300L|NLRP3_uc001icw.3_Silent_p.L300L|NLRP3_uc001icv.3_Silent_p.L300L|NLRP3_uc010pyw.2_Silent_p.L298L|NLRP3_uc001ict.1_Silent_p.L298L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	300	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)			TCCTCTTCCTCATGGACGGCT	0.582000														90			17		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911333	23911333	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:23911333C>A	uc001uon.2	-	9	7271	c.6682G>T	c.(6682-6684)Gac>Tac	p.D2228Y	SACS_uc001uoo.2_Missense_Mutation_p.D2081Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2228					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCTTTCCAGTCCAAAGAAAAA	0.378000														17			19		2.37509e-13	2.43131e-13	1	1	0
MYH4	4622	broad.mit.edu	37	17	10351276	10351276	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:10351276C>T	uc002gmn.3	-	33	4935	c.4824G>A	c.(4822-4824)gaG>gaA	p.E1608E	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1608					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1608K(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCTCCTGATCTCAGCATCCA	0.453000														75			83		0	0	1	0	0
TECR	9524	broad.mit.edu	37	19	14675058	14675058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:14675058C>T	uc002mza.3	+	6	578	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	TECR_uc010xns.2_5'UTR|TECR_uc002mzc.3_5'UTR|TECR_uc002mzb.3_Missense_Mutation_p.R165C|TECR_uc002mze.3_5'Flank	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase (TECR), transcript variant 1, mRNA.	150					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CTTCGTGCACCGCTTCTCCCA	0.652000														85			18		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451268	105451268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:105451268G>A	uc022cca.1	+	0	1843	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	MUM1L1_uc004emg.2_Missense_Mutation_p.E615K|MUM1L1_uc004emf.2_Missense_Mutation_p.E615K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	615										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATATTTACAAGAAGTCTGCAA	0.318000														20			9		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577105	92577105	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:92577105G>A	uc001pdj.4	+	17	10589	c.10572G>A	c.(10570-10572)aaG>aaA	p.K3524K	FAT3_uc001pdi.4_5'UTR	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3524	Cadherin 32.				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)				TTTAGGCAAAGGATTCAGGCA	0.438000										TCGA Ovarian(4;0.039)				213			99		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107314679	107314679	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:107314679C>T	uc003vep.3	+	4	710	c.486C>T	c.(484-486)ctC>ctT	p.L162L	Mir_548_uc022ajy.1_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	162					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACACTTTCTCGTATCCAGCA	0.458000									Pendred syndrome					130			56		0	0	1	0	0
LOC440905	440905	broad.mit.edu	37	2	130792771	130792771	+	RNA	SNP	A	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:130792771A>T	uc002tpz.2	-	7		c.2558T>A								Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		ATCACCTGGAATTGGAATTAA	0.468000														28			18		0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108559732	108559732	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:108559732C>T	uc001pkm.3	+	6	983	c.918C>T	c.(916-918)tcC>tcT	p.S306S	DDX10_uc001pkl.1_Silent_p.S306S	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	306	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGCTGTATTCCTTTTTGAGAA	0.383000			T	NUP98	AML*									180			71		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212181	26212181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:26212181C>T	uc022buc.1	+	0	218	c.218C>T	c.(217-219)cCt>cTt	p.P73L	MAGEB6_uc004dbr.3_Missense_Mutation_p.P73L	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	73	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ACTGGGTCTCCTGATGCAGTT	0.527000														43			35		0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153928316	153928316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:153928316G>A	uc004fmk.1	-	4	1136	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F	GAB3_uc004fmj.1_Missense_Mutation_p.S362F|GAB3_uc010nve.1_Missense_Mutation_p.S363F|GAB3_uc004fml.1_5'UTR	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	362										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTGTCTTAAGGATTGGCCTTC	0.393000														91			46		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10675265	10675265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr18:10675265G>A	uc002kos.2	-	49	7937	c.7763C>T	c.(7762-7764)cCa>cTa	p.P2588L	PIEZO2_uc002koq.3_Missense_Mutation_p.P380L	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2588						integral to membrane	ion channel activity										CACATAATATGGATAAATCTT	0.279000														22			17		0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5757382	5757382	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:5757382C>T	uc003zjl.4	+	15	2003	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	KIAA1432_uc003zjh.3_Silent_p.F562F|KIAA1432_uc003zji.3_Silent_p.F562F|KIAA1432_uc003zjj.1_Silent_p.F104F	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	641						integral to membrane		p.Q604Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTCACCCTTTCCTGGTGGTAT	0.433000														89			96		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66459397	66459397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:66459397C>T	uc021xzk.1	+	28	4698	c.4390C>T	c.(4390-4392)Cgc>Tgc	p.R1464C	MAST4_uc003jut.2_Missense_Mutation_p.R1275C|MAST4_uc003juw.3_Missense_Mutation_p.R1203C|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1467						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCTGTGCTCCCGCAAGCACAG	0.667000														1			4		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516600	140516600	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:140516600C>T	uc003liq.3	+	0	1801	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	528	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTCGAGTTCCGCGTGGGAG	0.687000														30			37		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045834	9045834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:9045834C>T	uc002mkp.3	-	4	36001	c.35797G>A	c.(35797-35799)Gaa>Aaa	p.E11933K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11935	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						CTGGAAAATTCTGGGGGTCCA	0.493000														77			45		0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89381275	89381275	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:89381275T>A	uc003hrt.3	+	2	572	c.419T>A	c.(418-420)aTa>aAa	p.I140K		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	140					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAAAAAAAAATAATTCAGATC	0.279000														19			6		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131922068	131922068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:131922068C>T	uc003ytd.4	-	5	1782	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E	ADCY8_uc010mds.3_Missense_Mutation_p.G509E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	509					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGAGTGGATTCCAATCCTCAT	0.473000										HNSCC(32;0.087)				115			22		0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7796197	7796197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:7796197C>T	uc002mhp.4	-	2	244	c.175G>A	c.(175-177)Gag>Aag	p.E59K	CLEC4G_uc021uny.1_Missense_Mutation_p.E47K	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA.	59						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GCCGCGCGCTCCGTGGAGGCT	0.726000														5			4		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18371810	18371810	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:18371810G>A	uc002zng.4	-	12	2234	c.1881C>T	c.(1879-1881)ctC>ctT	p.L627L	MICAL3_uc011agl.2_Silent_p.L627L|MICAL3_uc002znh.2_Silent_p.L627L|MICAL3_uc002znj.1_Silent_p.L327L|MICAL3_uc002znk.1_Silent_p.L627L|MICAL3_uc002znl.1_Silent_p.L260L|MICAL3_uc002znm.3_Silent_p.L128L|MICAL3_uc010grf.3_Silent_p.L627L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	627						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CGCTAGAGGGGAGGGAGTCCT	0.582000											OREG0026284	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			17		0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	40996174	40996174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:40996174G>A	uc003opi.3	-	8	1594	c.1495C>T	c.(1495-1497)Cca>Tca	p.P499S		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	499					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCGGGGCCTGGGCTGCCGCCG	0.701000											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			13		0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107531744	107531744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:107531744C>T	uc003prt.2	-	5	1197	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	PDSS2_uc011eak.1_Missense_Mutation_p.E167K|PDSS2_uc011eal.1_Intron|PDSS2_uc003pru.3_Missense_Mutation_p.E303K	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 2 (PDSS2), mRNA.	303					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CTGGTCTTTTCTTTAATAAAA	0.318000														17			8		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054484	67054484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:67054484C>T	uc003dmy.3	+	2	1146	c.1093C>T	c.(1093-1095)Cat>Tat	p.H365Y	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	365										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GATGTATGATCATTCCACCAA	0.448000														50			18		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119588973	119588973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:119588973C>T	uc001txa.2	+	9	1616	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	410	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ATCCCCAAATCCCAGGGCTTC	0.572000														100			47		0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78208580	78208580	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:78208580G>A	uc001vki.3	+	28	1928	c.1758G>A	c.(1756-1758)gaG>gaA	p.E586E	SCEL_uc010thx.2_Silent_p.E544E|SCEL_uc001vkj.3_Silent_p.E566E	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	586					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CATATGTGGAGAATAGGTATT	0.328000														27			19		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47533950	47533950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:47533950C>T	uc002zia.1	+	4	846	c.764C>T	c.(763-765)cCt>cTt	p.P255L	COL6A2_uc002zhz.1_Missense_Mutation_p.P255L|COL6A2_uc002zhy.1_Missense_Mutation_p.P255L	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	255	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGAAATCCCTGGGCCCTCT	0.562000														72			11		0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029070	41029070	+	Silent	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:41029070A>G	uc003opl.3	+	1	282	c.135A>G	c.(133-135)gaA>gaG	p.E45E	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Intron	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	45					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTACAGAGAACGGCTGCCTG	0.473000														43			56		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234846122	234846122	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:234846122T>A	uc002vvh.3	+	3	357	c.317T>A	c.(316-318)aTt>aAt	p.I106N	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Missense_Mutation_p.I56N|TRPM8_uc002vvj.3_Missense_Mutation_p.I29N	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	106						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TTTGGGGATATTCAGTTTGAG	0.468000														197			47		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332878	100332878	+	RNA	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:100332878G>A	uc021sxl.1	-	1		c.275C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		TGATGAGCCTGGTCCAGGAGC	0.622000														68			10		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30682963	30682963	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:30682963A>G	uc010gvs.2	-	2	745	c.347T>C	c.(346-348)tTt>tCt	p.F116S	TBC1D10A_uc003ahd.3_Intron|TBC1D10A_uc003ahf.3_Intron|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_Intron			Q9BXI6	TB10A_HUMAN	Homo sapiens GATS protein-like 3 (GATSL3), mRNA.	417	Rab-GAP TBC.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGCAGGTGAAAAGGTGTCCGT	0.672000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		72			28		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133676	177133676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:177133676G>A	uc001glc.3	-	0	349	c.137C>T	c.(136-138)cCc>cTc	p.P46L	ASTN1_uc001glb.1_Missense_Mutation_p.P46L|ASTN1_uc001gld.1_Missense_Mutation_p.P46L|ASTN1_uc009wwx.1_Missense_Mutation_p.P46L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	46					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGCAGGAAGGGCAGTGCCGA	0.662000														46			24		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90046491	90046491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:90046491G>A	uc003kju.3	+	52	11194	c.11098G>A	c.(11098-11100)Gat>Aat	p.D3700N	GPR98_uc003kjt.3_Missense_Mutation_p.D1406N|GPR98_uc003kjv.3_Missense_Mutation_p.D1300N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3700	Calx-beta 24.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGTATTAGTGATATATTTCC	0.373000														87			55		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24211322	24211322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:24211322G>A	uc003xdy.3	+	21	2367	c.2284G>A	c.(2284-2286)Gat>Aat	p.D762N	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Intron	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	762					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTTTTCAAGGATAATCCAGT	0.368000														146			65		0	0	1	0	0
TMEM237	65062	broad.mit.edu	37	2	202494062	202494062	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:202494062G>A	uc021vvg.1	-	8	861	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	TMEM237_uc021vvd.1_Nonsense_Mutation_p.Q49*|TMEM237_uc021vve.1_Nonsense_Mutation_p.Q246*|TMEM237_uc021vvf.1_Nonsense_Mutation_p.Q49*|TMEM237_uc010zho.1_Nonsense_Mutation_p.Q49*|TMEM237_uc010zhp.1_Non-coding_Transcript	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA.	278						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						TTGGATAGCTGATCTCCTGCT	0.428000														15			7		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110502237	110502237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:110502237G>A	uc003yne.3	+	59	10041	c.9937G>A	c.(9937-9939)Gat>Aat	p.D3313N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3313					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGCTTCAGGGATAGCACAGA	0.299000										HNSCC(38;0.096)				37			10		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82456275	82456275	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:82456275A>G	uc001dit.4	+	20	3839	c.3658A>G	c.(3658-3660)Agc>Ggc	p.S1220G	LPHN2_uc001dis.3_Missense_Mutation_p.S200G|LPHN2_uc001diu.3_Missense_Mutation_p.S1220G|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.S847G	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1276					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)		ACGGGGCAGCAGCAAGACTCA	0.448000														66			34		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237872838	237872838	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:237872838G>T	uc001hyl.1	+	69	10321	c.10201G>T	c.(10201-10203)Gaa>Taa	p.E3401*	RYR2_uc010pxz.1_Nonsense_Mutation_p.E356*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3401					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATGGTGGCTGAAGTGTTTAT	0.458000														31			3		0.014758	0.0148094	1	1	0
PRKCI	5584	broad.mit.edu	37	3	169999740	169999740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:169999740C>T	uc003fgs.2	+	10	1289	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	351	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	p.S350C(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAGAAAACTTCCTGAAGAACA	0.373000														62			34		0	0	1	0	0
MSTO2P	100129405	broad.mit.edu	37	1	155717531	155717531	+	Silent	SNP	T	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:155717531T>G	uc010pgo.1	+	6	749	c.738T>G	c.(736-738)ctT>ctG	p.L246L	GON4L_uc021paz.1_Intron|MSTO2P_uc010pgn.1_Intron|MSTO2P_uc010pgp.2_Intron					Homo sapiens misato homolog 2 pseudogene (MSTO2P), non-coding RNA.																		CTAACTATCTTTCGTCACTCA	0.557000														54			28		0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65366868	65366868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:65366868G>A	uc001oew.3	-	8	2696	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C	MAP3K11_uc001oev.3_Missense_Mutation_p.R151C|MAP3K11_uc010rol.2_Missense_Mutation_p.R478C|MAP3K11_uc001oex.1_Missense_Mutation_p.R242C	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	735	Pro-rich.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CACTCACCGCGGGGCTCCTCC	0.687000														39			18		0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1290660	1290660	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:1290660C>G	uc001aex.4	-	3	473	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	MXRA8_uc001aew.3_Missense_Mutation_p.E148Q|MXRA8_uc001aey.4_Missense_Mutation_p.E148Q|MXRA8_uc001aez.3_Missense_Mutation_p.E47Q|MXRA8_uc001afa.3_Missense_Mutation_p.E139Q	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	Homo sapiens matrix-remodelling associated 8 (MXRA8), mRNA.	148	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCCAGGCTCTCGTAGAGGTGG	0.731000														103			17		0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134154640	134154640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:134154640C>T	uc003kzw.3	+	20	3088	c.2920C>T	c.(2920-2922)Cct>Tct	p.P974S		NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	974					RNA splicing|mRNA processing	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)			AACCTACTTCCCTCCTGGCAA	0.413000														40			26		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140358795	140358795	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:140358795G>A	uc010ncj.1	-	26	3490	c.3153C>T	c.(3151-3153)atC>atT	p.I1051I	PNPLA7_uc004cnd.1_Silent_p.I292I|PNPLA7_uc004cne.1_Silent_p.I292I|PNPLA7_uc011mfa.1_Silent_p.I434I|PNPLA7_uc004cnf.2_Silent_p.I1026I	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1026	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGTGCACCTCGATCTGCTGGT	0.647000														94			81		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169367	138169367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:138169367G>A	uc002tva.1	+	12	2791	c.2791G>A	c.(2791-2793)Ggc>Agc	p.G931S	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G821S	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											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)		ATGTGGAGAAGGCCTGCGCTT	0.512000														75			30		0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23695351	23695351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:23695351C>T	uc002dlz.1	+	4	1030	c.977C>T	c.(976-978)tCg>tTg	p.S326L		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	326					G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding	p.S326L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCAAGGTTTTCGATTGCTCCC	0.547000														146			45		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607553	68607553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:68607553G>A	uc002sen.4	+	1	298	c.136G>A	c.(136-138)Gga>Aga	p.G46R	PLEK_uc010fde.3_Missense_Mutation_p.G46R	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	46	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CAGCCCCAAAGGAATGATCCC	0.458000														103			12		0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9989669	9989669	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:9989669C>T	uc003bul.2	-	3	1318	c.1188G>A	c.(1186-1188)tgG>tgA	p.W396*	CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.	396	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GGCGCCCCGGCCACTCCTCGG	0.557000														12			3		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73834169	73834169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:73834169G>A	uc001ouu.2	-	7	1456	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	C2CD3_uc001ouv.2_Missense_Mutation_p.S410F	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	410						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATTGCCTTGGGATAATTCAGC	0.423000														41			17		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42092817	42092817	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:42092817G>A	uc002ore.4	+	7	979	c.883_splice	c.e7-1		CEACAM21_uc002org.4_Splice_Site	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.							integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GTTTTTACTGGAATTGCTACA	0.527000														57			8		0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	920851	920851	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:920851C>T	uc021tae.1	-	7	1114	c.1110G>A	c.(1108-1110)tcG>tcA	p.S370S	LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Silent_p.S153S|LMF1_uc021tad.1_Silent_p.S201S|LMF1_uc010bri.2_Silent_p.S133S|LMF1_uc002ckk.2_Silent_p.S153S	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	370						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GGACGCCCAGCGAGACGTTGG	0.657000														28			4		0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705249	101705249	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:101705249T>C	uc021oqt.1	+	0	709	c.709T>C	c.(709-711)Ttc>Ctc	p.F237L	S1PR1_uc001dud.2_Missense_Mutation_p.F237L|S1PR1_uc009weg.2_Missense_Mutation_p.F237L	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	237					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCGCCTGACGTTCCGCAAGAA	0.572000														52			14		0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43812473	43812473	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:43812473C>T	uc001ciw.3	+	7	1221	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	MPL_uc001civ.3_Silent_p.P392P|MPL_uc009vwr.3_Silent_p.P385P	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	392					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCGCCTCCCCACCCCAAACT	0.577000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							187			46		0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90020691	90020691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:90020691C>T	uc002fpn.2	+	2	347	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	DEF8_uc021tmu.1_Missense_Mutation_p.R11W|DEF8_uc002fpl.3_Missense_Mutation_p.R11W|DEF8_uc002fpm.3_Missense_Mutation_p.R11W|DEF8_uc002fpo.2_Missense_Mutation_p.R11W|DEF8_uc002fpp.2_Missense_Mutation_p.R11W|DEF8_uc021tmv.1_Missense_Mutation_p.R11W|DEF8_uc010vpq.2_Intron|DEF8_uc010vpr.2_Missense_Mutation_p.R11W	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	72					intracellular signal transduction		zinc ion binding	p.F71F(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GGCCCGTTTCCGGCAGGCCCA	0.642000														72			44		0	0	1	0	0
PDCL2	132954	broad.mit.edu	37	4	56448367	56448367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:56448367C>T	uc003hbb.3	-	1	147	c.44G>A	c.(43-45)aGa>aAa	p.R15K		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	Homo sapiens phosducin-like 2 (PDCL2), mRNA.	15										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			GCCGAAATCTCTTAAAATGTC	0.318000														58			10		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501949	150501949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:150501949G>A	uc003whx.1	+	6	779	c.701G>A	c.(700-702)gGa>gAa	p.G234E		NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	234						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGTGAGTGGAATCTAGCCA	0.517000														86			35		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639560	7639560	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:7639560G>A	uc001qsz.3	-	8	2201	c.2073C>T	c.(2071-2073)tcC>tcT	p.S691S	CD163_uc001qta.3_Silent_p.S691S|CD163_uc009zfw.2_Silent_p.S724S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	691					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.L690L(1)		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						AATTGCACGAGGACAGTGTTT	0.443000														73			21		0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37618918	37618918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:37618918G>A	uc002ofl.3	+	4	1240	c.1025G>A	c.(1024-1026)aGg>aAg	p.R342K		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	Homo sapiens zinc finger protein 420 (ZNF420), mRNA.	342					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)			GAATGTGGAAGGGCCTTTATT	0.408000														56			27		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71092066	71092066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:71092066G>A	uc001swi.2	-	7	1672	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	PTPRR_uc001swh.2_Missense_Mutation_p.R175C|PTPRR_uc009zrs.3_Missense_Mutation_p.R214C|PTPRR_uc010stq.2_Missense_Mutation_p.R308C|PTPRR_uc010str.1_Missense_Mutation_p.R269C	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	420	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.N419T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTCTTATAGCGATTTTTAGTT	0.343000														50			22		0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8056644	8056644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:8056644C>T	uc002mjb.3	-	1	223	c.56G>A	c.(55-57)aGa>aAa	p.R19K		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA.	19					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	p.G18W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CAAATTCGTTCTCCCGATGTC	0.423000														93			23		0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4578571	4578571	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:4578571G>A	uc002fyi.4	-	9	1381	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	PELP1_uc010vsf.2_Silent_p.L238L	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	385					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CCACTCACGCGAGGATGAGTG	0.602000														6			4		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1995503	1995503	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:1995503C>T	uc021qsx.1	-	7	1110	c.879G>A	c.(877-879)gtG>gtA	p.V293V	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	293	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCACCAAAATCACTATGTCCT	0.507000														58			9		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539455	55539455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:55539455C>T	uc003xsd.1	+	3	3161	c.3013C>T	c.(3013-3015)Cat>Tat	p.H1005Y	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1005					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGAAGATCTCCATGAGACACA	0.373000														198			98		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916201	131916201	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:131916201G>A	uc003ytd.4	-	6	1984	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	ADCY8_uc010mds.3_Silent_p.F576F	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	576					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTTCCTCAGGAATTCATTCC	0.468000										HNSCC(32;0.087)				140			74		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41962150	41962150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:41962150C>T	uc010ucy.2	+	1	1239	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	MGA_uc001zog.1_Missense_Mutation_p.S353F|MGA_uc010ucz.2_Missense_Mutation_p.S353F	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	353						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.I352F(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAAGAGATTTCTGAATGGTAA	0.373000														18			6		0	0	1	0	0
LOC100287704	100287704	broad.mit.edu	37	7	62809664	62809664	+	RNA	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:62809664C>T	uc011kdk.2	+	0		c.217C>T								Homo sapiens uncharacterized LOC100287704 (LOC100287704), non-coding RNA.																		CCTTGAGCCCCTCCTTCCTCA	0.612000														5			3		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21908530	21908530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:21908530C>T	uc003svc.3	+	73	11940	c.11909C>T	c.(11908-11910)tCt>tTt	p.S3970F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3970	AAA 6 (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						CACAATGTGTCTTTAGGACAA	0.478000									Kartagener syndrome					90			45		0	0	1	0	0
NEURL3	93082	broad.mit.edu	37	2	97166148	97166148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:97166148C>T	uc010yuo.2	-	1	613	c.542G>A	c.(541-543)gGg>gAg	p.G181E	NEURL3_uc010fhx.3_Intron|NEURL3_uc002swc.3_Intron					Homo sapiens neuralized homolog 3 (Drosophila) pseudogene (NEURL3), non-coding RNA.																		TCCCCACCTCCCCTGCGGGGT	0.647000														25			7		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566771	4566771	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:4566771C>T	uc010qyf.2	+	0	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		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)		CAGGCATCTTCCTTGCCATGG	0.522000														84			45		0	0	1	0	0
CHST7	56548	broad.mit.edu	37	X	46433603	46433603	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:46433603G>A	uc022bvm.1	+	0	237	c.237G>A	c.(235-237)gcG>gcA	p.A79A	CHST7_uc004dgt.3_Silent_p.A79A	NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 (CHST7), mRNA.	79					N-acetylglucosamine metabolic process|chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity|chondroitin 6-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						AAGGGGGCGCGAACCAGTCTC	0.726000														9			3		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130318952	130318952	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:130318952C>T	uc010scd.2	+	0	84	c.84C>T	c.(82-84)ccC>ccT	p.P28P		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	28					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TAGTCGTTCCCATCCGACTGG	0.637000														31			16		0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99569492	99569492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:99569492C>T	uc003ush.3	-	1	306	c.214G>A	c.(214-216)Gga>Aga	p.G72R		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	72					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CTCCAGAGTCCCATGGGCTGA	0.512000														103			28		0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800155	74800156	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:74800155_74800156GG>AC	uc010rro.2	-	0	603_604	c.603_604CC>GT	c.(601-606)accctc>acGTtc	p.L202F		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AAGCCCATGAGGGTCTGGGGGG	0.569000														18			9		0	0	1	0	0
FAM70B	348013	broad.mit.edu	37	13	114502332	114502332	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:114502332G>A	uc001vuh.3	+	4	390	c.363G>A	c.(361-363)acG>acA	p.T121T		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	121						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CCCTCACCACGGGAAGATGCC	0.537000														25			28		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969331	140969331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:140969331G>A	uc011mwp.2	+	3	658	c.658G>A	c.(658-660)Ggc>Agc	p.G220S		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	220	MAGE 1.							p.T219T(2)|p.T219M(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CACATACACGGGCTACTTTCC	0.438000														100			75		0	0	1	0	0
OR56A5	390084	broad.mit.edu	37	11	5988855	5988855	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:5988855C>T	uc010qzu.2	-	0	870	c.870G>A	c.(868-870)ctG>ctA	p.L290L		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	290						integral to membrane|plasma membrane	olfactory receptor activity										CAATGGGGTTCAGAGCTGGGG	0.493000														42			15		0	0	1	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097150	110097150	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:110097150A>G	uc003koz.3	+	7	992	c.925A>G	c.(925-927)Atg>Gtg	p.M309V	SLC25A46_uc011cvi.2_Missense_Mutation_p.M218V	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	Homo sapiens solute carrier family 25, member 46 (SLC25A46), mRNA.	309					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TGTGCAGAGTATGTTGGATGC	0.403000														121			139		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154132188	154132188	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:154132188G>A	uc004fmt.3	-	17	6162	c.5991C>T	c.(5989-5991)ctC>ctT	p.L1997L	F8_uc010nvi.1_Silent_p.L156L	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1997	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TACCTGGATAGAGATTGTACA	0.388000														150			26		0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64275881	64275881	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:64275881C>T	uc002amr.3	-	2	196	c.165G>A	c.(163-165)aaG>aaA	p.K55K	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Silent_p.K45K	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	55	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCTGCCGCTTCTTGATGAACT	0.617000														55			11		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128039	83128039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:83128039C>T	uc004eei.1	+	3	344	c.323C>T	c.(322-324)aCc>aTc	p.T108I	CYLC1_uc004eeh.1_Missense_Mutation_p.T107I	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	108					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACTTCCAAAACCCATCTTAAA	0.358000														36			3		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203512	84203512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:84203512G>A	uc002fhl.4	+	7	1259	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	DNAAF1_uc010vnw.2_Missense_Mutation_p.E124K	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	360					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CGCCAGTGCGGAAGGCAAGGA	0.532000														74			12		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102632511	102632511	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:102632511A>T	uc002tbm.3	+	3	740	c.511A>T	c.(511-513)Aag>Tag	p.K171*	IL1R2_uc002tbn.3_Nonsense_Mutation_p.K171*|IL1R2_uc002tbo.1_Nonsense_Mutation_p.K171*	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	171	Ig-like C2-type 2.			K -> R (in Ref. 2; AAD00242).	immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TCAATGGTACAAGGTACGGCT	0.363000														53			8		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46501231	46501231	+	Silent	SNP	T	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:46501231T>G	uc001cov.3	+	28	5173	c.4890T>G	c.(4888-4890)ctT>ctG	p.L1630L	MAST2_uc001cow.3_Silent_p.L1629L|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1630					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TAACAGCACTTTCTCCCAGCA	0.602000														88			35		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58189835	58189835	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:58189835C>T	uc010rkg.2	-	0	952	c.900G>A	c.(898-900)aaG>aaA	p.K300K		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAACACTTTCTTGAATGCAT	0.388000														57			31		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94519598	94519598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:94519598C>T	uc004arj.2	-	2	618	c.419G>A	c.(418-420)gGg>gAg	p.G140E	ROR2_uc004ari.1_5'UTR|ROR2_uc004ark.3_Missense_Mutation_p.G140E	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	140	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.N139K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTCTTCATCCCGTTGGTGGC	0.557000														65			52		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960442	73960442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:73960442G>A	uc004eby.3	-	2	4567	c.3950C>T	c.(3949-3951)tCc>tTc	p.S1317F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1317					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.S1317S(2)		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						CAAGATATAGGAAGGCTCCTG	0.537000														85			44		0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005455	120005455	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:120005455C>T	uc002tlp.3	+	3	850	c.693C>T	c.(691-693)ttC>ttT	p.F231F	STEAP3_uc002tlq.3_Silent_p.F241F|STEAP3_uc002tlr.3_Silent_p.F231F|STEAP3_uc010fle.3_Silent_p.F231F	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	231					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCTACAACTTCGTCCGGGACG	0.637000														118			62		0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69844689	69844689	+	Splice_Site	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:69844689T>A	uc004dyl.3	-	20	1901	c.1739_splice	c.e20+1	p.K580_splice	TEX11_uc004dyk.3_Splice_Site_p.K255_splice|TEX11_uc004dym.3_Splice_Site_p.K565_splice	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	580							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GGTTACTTACTTTACAGCTGT	0.353000														31			8		0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32542037	32542037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:32542037G>A	uc003zrb.3	-	2	2678	c.2486C>T	c.(2485-2487)tCa>tTa	p.S829L	TOPORS_uc003zrc.3_Missense_Mutation_p.S764L	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	829	Interaction with TOP1.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CAATTTTGATGAAGATTTTTG	0.398000														34			37		0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68457092	68457093	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:68457092_68457093CC>TT	uc002aqz.3	+	7	1051_1052	c.958_959CC>TT	c.(958-960)cca>TTa	p.P320L		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	320					JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GACTGCGGATCCAGACAGTGAA	0.337000														12			12		0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101706790	101706790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:101706790G>A	uc010fiv.3	-	1	295	c.164C>T	c.(163-165)tCc>tTc	p.S55F	TBC1D8_uc010yvw.2_Missense_Mutation_p.S55F	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	55					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding	p.S55F(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCGTGCATTGGAATCCAACAC	0.522000														70			29		0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170108030	170108030	+	Silent	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:170108030T>C	uc003fgu.3	+	4	2161	c.1449T>C	c.(1447-1449)aaT>aaC	p.N483N	SKIL_uc011bps.2_Silent_p.N463N|SKIL_uc003fgv.3_Silent_p.N437N|SKIL_uc003fgw.3_Silent_p.N483N	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	483					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCTCAAATAATTCTACAAGTA	0.353000														18			23		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197422750	197422750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:197422750G>A	uc003fyc.2	-	8	1643	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V	KIAA0226_uc003fyd.3_Missense_Mutation_p.A442V|KIAA0226_uc003fye.1_Missense_Mutation_p.A194V|KIAA0226_uc003fyf.3_Missense_Mutation_p.A335V	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	487					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TTCCAGGTCGGCACAGCTGCC	0.537000														111			35		0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109292466	109292466	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:109292466T>C	uc001tnr.4	+	8	1378	c.707T>C	c.(706-708)gTt>gCt	p.V236A	DAO_uc001tnq.4_Missense_Mutation_p.V170A|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	236					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						ACCCAGACAGTTACTCTTGGA	0.473000														111			33		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50595843	50595843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:50595843G>A	uc003tpg.4	-	5	907	c.706C>T	c.(706-708)Cct>Tct	p.P236S	DDC_uc022ade.1_Missense_Mutation_p.P158S|DDC_uc003tpf.4_Missense_Mutation_p.P236S|DDC_uc022adb.1_Missense_Mutation_p.P198S|DDC_uc022adc.1_Intron|DDC_uc022add.1_Intron|DDC_uc022adf.1_Missense_Mutation_p.P236S	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	236					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ACAAAGAAAGGAATCAGGCCA	0.507000														72			19		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150082	34150082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:34150082G>A	uc004ddg.3	-	0	366	c.314C>T	c.(313-315)tCc>tTc	p.S105F		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	105										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGAGAGCTTGGAAAATAGGGC	0.547000														55			52		0	0	1	0	0
FNDC8	54752	broad.mit.edu	37	17	33456448	33456448	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:33456448G>A	uc002hix.3	+	2	675	c.593G>A	c.(592-594)tGg>tAg	p.W198*		NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	Homo sapiens fibronectin type III domain containing 8 (FNDC8), mRNA.	198	Fibronectin type-III.									breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		TAGATTTCCTGGACCTACGCC	0.577000														82			26		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173478778	173478778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:173478778C>T	uc001giz.2	-	23	3391	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	SLC9C2_uc009wwe.2_Missense_Mutation_p.E548K	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	990					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTTTATATTCCAGAGATGGC	0.378000														15			12		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13839481	13839481	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:13839481T>G	uc003jfd.2	-	34	5908	c.5866A>C	c.(5866-5868)Act>Cct	p.T1956P		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1956	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTAAGTGGAGTTATTACAAGC	0.418000									Kartagener syndrome					52			47		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34190997	34190997	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:34190997G>C	uc001bxm.1	-	16	2825	c.2648C>G	c.(2647-2649)tCt>tGt	p.S883C	CSMD2_uc001bxn.1_Missense_Mutation_p.S843C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	843	Sushi 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTGTCGGTAGAGAAGAGGAG	0.577000														40			8		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44891893	44891893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:44891893C>T	uc010xxa.2	-	3	578	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.E172K	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						AATTTCTCTTCCATGTAAATT	0.478000														67			41		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201195016	201195016	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:201195016G>A	uc001gwc.3	+	21	10681	c.10551G>A	c.(10549-10551)gaG>gaA	p.E3517E	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGACGGCCGAGTGGGAACCCT	0.687000														37			9		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7151394	7151394	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:7151394A>C	uc001aoi.3	+	3	472	c.265A>C	c.(265-267)Aaa>Caa	p.K89Q		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.E88E(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AACATTTGAGAAACACGAAGA	0.348000			T	WWTR1	epitheliod hemangioendothelioma									28			24		0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853390	53853390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:53853390C>T	uc011ldu.2	+	0	923	c.923C>T	c.(922-924)gCc>gTc	p.A308V		NM_005285	NP_005276	P48145	NPBW1_HUMAN	Homo sapiens neuropeptides B/W receptor 1 (NPBWR1), mRNA.	308					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TTCCTCTACGCCTTCCTGGAC	0.652000														52			6		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107704222	107704222	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:107704222G>A	uc010ljo.1	-	21	3129	c.3045C>T	c.(3043-3045)ctC>ctT	p.L1015L	LAMB4_uc003vey.2_Silent_p.L1015L|LAMB4_uc010ljp.1_5'UTR	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1015	Laminin EGF-like 10.				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						AGGTCTGATTGAGGGCTGATC	0.522000														199			90		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549156	158549156	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:158549156C>T	uc010pin.2	-	0	534	c.534G>A	c.(532-534)ctG>ctA	p.L178L		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CCCTGAATATCAGTGCAGTCT	0.448000														45			10		0	0	1	0	0
ZFP106	64397	broad.mit.edu	37	15	42743008	42743008	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:42743008G>A	uc001zpw.3	-	1	1720	c.1393C>T	c.(1393-1395)Caa>Taa	p.Q465*	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Nonsense_Mutation_p.Q248*|ZFP106_uc001zpy.1_Nonsense_Mutation_p.Q488*	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	465						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TCTTGCTTTTGAGACAATGAT	0.408000														195			44		0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48880471	48880471	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:48880471G>A	uc001rrr.3	+	4	228	c.97_splice	c.e4-1	p.E33_splice	C12orf54_uc009zky.1_Splice_Site	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	33										endometrium(1)|large_intestine(4)	5						ATTTCTACAGGAAAAACAGGT	0.438000														40			8		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989385	53989385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:53989385G>A	uc011dxa.2	+	2	400	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	MLIP_uc003pcf.2_Missense_Mutation_p.E112K|MLIP_uc003pcg.4_Missense_Mutation_p.E112K|MLIP_uc003pch.4_Missense_Mutation_p.E50K|MLIP_uc011dwz.1_Missense_Mutation_p.E71K	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	112						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AAGGGAATTCGAAGCAAACAA	0.453000														44			80		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440836	124440836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:124440836C>T	uc010san.2	+	0	872	c.872C>T	c.(871-873)tCt>tTt	p.S291F		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S291C(2)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AATGTGGCCTCTGTGTTCTAC	0.493000														52			27		0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587353	36587353	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:36587353T>C	uc003aox.3	-	5	1048	c.823A>G	c.(823-825)Aga>Gga	p.R275G	APOL4_uc003aow.3_Missense_Mutation_p.R272G|APOL4_uc010gww.3_Missense_Mutation_p.R118G	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	276					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						CCACGTGTTCTCAGTGTCTCA	0.502000														57			6		0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51929065	51929065	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:51929065G>A	uc003dbv.3	-	3	557	c.459C>T	c.(457-459)atC>atT	p.I153I	IQCF1_uc003dbq.4_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	153	IQ 2.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGCCTGGATGATGCGAACAG	0.607000														145			60		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976139	20976139	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:20976139G>A	uc010vbe.2	-	52	9067	c.9067C>T	c.(9067-9069)Cag>Tag	p.Q3023*	DNAH3_uc010vbd.2_Nonsense_Mutation_p.Q458*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3023					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)		GCCAACCACTGATTTTGGCAC	0.507000														39			19		0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148582539	148582539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:148582539G>A	uc011mxe.2	-	3	665	c.448C>T	c.(448-450)Ccg>Tcg	p.P150S	IDS_uc011mxf.2_Missense_Mutation_p.P60S|IDS_uc011mxg.2_5'UTR|IDS_uc010nsu.2_Intron|IDS_uc004fcw.4_5'UTR|IDS_uc011mxh.2_Missense_Mutation_p.P150S|IDS_uc011mxi.2_Non-coding_Transcript	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	150						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAGCTATACGGAGAATCATCG	0.388000														103			12		0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14861851	14861851	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:14861851C>T	uc004cwg.1	-	9	2686	c.2418G>A	c.(2416-2418)agG>agA	p.R806R	FANCB_uc004cwh.1_Silent_p.R806R	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	806					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GGATATTTTCCCTTCTGTCTG	0.398000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					93			20		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201155	132201155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:132201155G>A	uc002tst.2	-	0	1313	c.847C>T	c.(847-849)Cat>Tat	p.H283Y						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		ATGATGACATGGGCAAGGGAG	0.607000														10			6		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627465	38627465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:38627465G>A	uc021wvo.1	-	14	2556	c.2504C>T	c.(2503-2505)tCa>tTa	p.S835L	SCN5A_uc021wvk.1_Missense_Mutation_p.S835L|SCN5A_uc021wvl.1_Missense_Mutation_p.S835L|SCN5A_uc021wvm.1_Missense_Mutation_p.S835L|SCN5A_uc021wvn.1_Missense_Mutation_p.S835L|SCN5A_uc021wvp.1_Missense_Mutation_p.S835L|SCN5A_uc021wvq.1_Missense_Mutation_p.S835L|SCN5A_uc021wvr.1_Missense_Mutation_p.S835L|SCN5A_uc021wvs.1_Missense_Mutation_p.S835L|SCN5A_uc021wvt.1_Missense_Mutation_p.S835L|SCN5A_uc021wvu.1_Missense_Mutation_p.S835L|SCN5A_uc021wvv.1_Missense_Mutation_p.S835L|SCN5A_uc021wvj.1_Missense_Mutation_p.S701L|SCN5A_uc021wvi.1_Missense_Mutation_p.S701L|SCN5A_uc021wvw.1_Missense_Mutation_p.S446L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	835					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGCCCCCACTGAGTTCCCGAT	0.562000														41			15		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55910796	55910796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:55910796C>T	uc003tqz.2	-	4	514	c.397G>A	c.(397-399)Gat>Aat	p.D133N		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	133					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AATTGGGCATCTATGTAGTCA	0.353000														11			4		0	0	1	0	0
UXT	8409	broad.mit.edu	37	X	47517189	47517189	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:47517189G>A	uc004dim.3	-	1	425	c.208C>T	c.(208-210)Cga>Tga	p.R70*	UXT_uc022bvp.1_Non-coding_Transcript|UXT_uc004din.3_Nonsense_Mutation_p.R58*|LOC100133957_uc011mls.1_5'Flank|LOC100133957_uc011mlt.1_5'Flank	NM_153477	NP_705582	Q9UBK9	UXT_HUMAN	Homo sapiens ubiquitously-expressed, prefoldin-like chaperone (UXT), transcript variant 1, mRNA.	58					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						ACCTGGAGTCGCTCAATGACA	0.483000														36			12		0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40834459	40834459	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:40834459G>A	uc002yya.3	+	1	447	c.393G>A	c.(391-393)caG>caA	p.Q131Q	SH3BGR_uc002yxz.3_Silent_p.Q20Q	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	131					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TGCCTCCCCAGATCTTCAATG	0.398000														32			4		0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	26997898	26997898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:26997898G>A	uc003acy.1	-	4	590	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F		NM_001887	NP_001878	P53674	CRBB1_HUMAN	Homo sapiens crystallin, beta B1 (CRYBB1), mRNA.	174	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens	p.L174H(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TAGACCCAGAGACTGGGTGCG	0.592000														54			52		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Missense_Mutation	SNP	C	T	T	rs121913384		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:21971096C>T	uc003zpk.3	-	1	568	c.262G>A	c.(262-264)Gag>Aag	p.E88K	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.E88K|CDKN2A_uc003zpl.3_Missense_Mutation_p.G102E	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	88			E -> D (in a biliary tract tumor).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(30)|p.E88E(6)|p.E88K(6)|p.V82_G89>G(2)|p.E88D(2)|p.V82_E88del(2)|p.D84_F90del(2)|p.E87K(2)|p.E61_L94del(2)|p.H83fs*2(2)|p.G143V(1)|p.R87fs*59(1)|p.E88A(1)|p.E88G(1)|p.A68fs*3(1)|p.E88V(1)|p.0(1)|p.R137fs*48(1)|p.R87L(1)|p.R87Q(1)|p.R87W(1)|p.R87fs(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756000	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				16			18		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423088	56423088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:56423088C>T	uc010ygg.2	-	4	2120	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	699							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)		ATTTCCAAGTCCCTTTCAAGG	0.403000														114			22		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115760582	115760582	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:115760582C>T	uc003ibu.3	-	10	2917	c.2238G>A	c.(2236-2238)tgG>tgA	p.W746*	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	746	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGACTGCATACCATCCAGGTA	0.373000														103			28		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890100	55890100	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:55890100G>A	uc001nii.1	+	0	252	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AAACCTTAGCGAACTTACTGA	0.438000														371			156		0	0	1	0	0
ALG8	79053	broad.mit.edu	37	11	77820538	77820538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:77820538G>A	uc001oza.1	-	8	1053	c.988C>T	c.(988-990)Ccc>Tcc	p.P330S	ALG8_uc001oyz.1_Missense_Mutation_p.P330S	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	330					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.P330P(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GTCACTGAGGGAAGGACTGTG	0.423000														132			48		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606511	55606511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:55606511C>T	uc010rio.2	+	0	284	c.284C>T	c.(283-285)tCa>tTa	p.S95L		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S95L(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AGAACCATTTCATTCTCAGGA	0.408000														250			110		0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89150311	89150311	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:89150311G>A	uc001dmn.3	+	1	390	c.48_splice	c.e1+1	p.Q16_splice	AK123834_uc021opn.1_Intron|PKN2_uc010osp.2_Splice_Site_p.Q16_splice|PKN2_uc010osq.2_Splice_Site|PKN2_uc009wcv.3_Splice_Site_p.Q16_splice	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	16					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CGGAACTGCAGGTAAGGGCCG	0.726000														6			4		0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112993366	112993366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:112993366C>T	uc003dzx.3	+	8	2000	c.1379C>T	c.(1378-1380)cCg>cTg	p.P460L	BOC_uc003dzy.3_Missense_Mutation_p.P460L|BOC_uc003dzz.3_Missense_Mutation_p.P460L|BOC_uc003eab.3_Missense_Mutation_p.P161L	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	460					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCTGCTTCCCCGCAGTGTCCA	0.647000														26			10		0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97215139	97215139	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:97215139T>C	uc002swe.3	+	2	302	c.202T>C	c.(202-204)Ttc>Ctc	p.F68L	ARID5A_uc010yuq.2_5'UTR|ARID5A_uc002swf.3_Intron|ARID5A_uc002swg.3_Intron	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	68	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CCTCTACAAGTTCATGAAGGA	0.682000														122			61		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47650362	47650362	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:47650362G>A	uc010jzj.1	+	5	2068	c.2067G>A	c.(2065-2067)caG>caA	p.Q689Q	GPR111_uc003oyy.3_Splice_Site_p.Q621_splice	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	689					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ATGCATTCCAGGTAAGTCCAG	0.453000														26			46		0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185240483	185240483	+	Missense_Mutation	SNP	G	A	A	rs77632908		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:185240483G>A	uc001grg.4	+	16	2584	c.2470G>A	c.(2470-2472)Gat>Aat	p.D824N	SWT1_uc001grh.4_Missense_Mutation_p.D824N	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	824										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TAATTATCAAGATGTTGAGAC	0.279000														43			14		0	0	1	0	0
C17orf56	146705	broad.mit.edu	37	17	79202912	79202912	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:79202912C>T	uc002jzu.2	-	11	1452	c.1394G>A	c.(1393-1395)tGg>tAg	p.W465*	C17orf56_uc002jzr.2_Nonsense_Mutation_p.W135*|C17orf56_uc002jzs.2_Nonsense_Mutation_p.W381*|C17orf56_uc002jzt.2_Nonsense_Mutation_p.W381*|C17orf56_uc002jzv.2_Nonsense_Mutation_p.W313*|AL832593_uc002jzw.1_Non-coding_Transcript	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	465						integral to membrane				endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3)	11	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTCGCGGCTCCACGCACAGCT	0.687000														33			5		0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79116061	79116061	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:79116061A>G	uc001dip.4	+	1	305	c.181A>G	c.(181-183)Att>Gtt	p.I61V	IFI44_uc010orr.1_Missense_Mutation_p.I61V|IFI44_uc010ors.1_Intron	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	61					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AGATCATATTATTGGAGCATA	0.378000														160			45		0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40489793	40489793	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:40489793G>A	uc002hzl.1	-	6	873	c.633C>T	c.(631-633)gaC>gaT	p.D211D	STAT3_uc002hzk.1_Silent_p.D211D|STAT3_uc002hzm.1_Silent_p.D211D|STAT3_uc010wgh.1_Silent_p.D113D|STAT3_uc002hzn.1_Silent_p.D211D	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	211					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCCGCATCTGGTCCAGCGCAG	0.517000									Hyperimmunoglobulin E Recurrent Infection Syndrome					71			25		0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179887340	179887340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:179887340C>T	uc001gnq.3	+	9	1936	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	573						integral to membrane|nuclear inner membrane		p.Q572*(1)|p.Q572H(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CCTGTGCAACCTGAAAATGCC	0.433000														38			27		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229365	21229366	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:21229365_21229366CC>TT	uc002red.3	-	25	10502_10503	c.10374_10375GG>AA	c.(10372-10377)atggaa>atAAaa	p.3458_3459ME>IK		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3458	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TACTTAAATTCCATGGAGGAAG	0.386000														142			55		0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46073286	46073286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:46073286G>A	uc001coi.2	+	5	862	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	NASP_uc010olq.2_Missense_Mutation_p.E198K|NASP_uc021omz.1_Missense_Mutation_p.E237K|NASP_uc001coj.2_Intron|NASP_uc010olr.2_Missense_Mutation_p.E171K|NASP_uc001cok.2_Missense_Mutation_p.E118K	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	235	Glu-rich (acidic).|Histone-binding.				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GCCAGAACAGGAAGTACCAGA	0.473000														47			15		0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122154727	122154727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:122154727C>T	uc002tnc.3	-	28	3499	c.3109G>A	c.(3109-3111)Gac>Aac	p.D1037N	CLASP1_uc010yyv.2_Missense_Mutation_p.D123N|CLASP1_uc002tmz.3_Missense_Mutation_p.D123N|CLASP1_uc002tna.3_Missense_Mutation_p.D123N|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.D1017N|CLASP1_uc010yza.2_Missense_Mutation_p.D1009N|CLASP1_uc021vnl.1_Missense_Mutation_p.D1015N|CLASP1_uc010yzc.2_Non-coding_Transcript	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	1038					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TTTCTCACGTCTGAACTCTTT	0.423000														52			22		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398316	10398316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:10398316G>A	uc002gmo.3	-	36	5492	c.5398C>T	c.(5398-5400)Cgt>Tgt	p.R1800C	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1800						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1800H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATCCAGACGATGCTGCAGG	0.552000														65			76		0	0	1	0	0
FTSJ1	24140	broad.mit.edu	37	X	48340019	48340019	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:48340019G>A	uc004djo.1	+	9	895	c.572_splice	c.e9-1	p.E191_splice	FTSJ1_uc004djn.1_Splice_Site_p.E191_splice|FTSJ1_uc011mlw.1_Splice_Site_p.E54_splice	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.	191					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						TCCCCTGGCAGAGGCCTTCGC	0.642000														33			8		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056981	120056981	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:120056981C>G	uc001ehv.1	+	3	980	c.835C>G	c.(835-837)Cgc>Ggc	p.R279G		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	279					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GTTCGGCCTCCGCCTTGATTC	0.478000														112			32		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757003	56757003	+	Silent	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:56757003T>A	uc010rjp.2	+	0	615	c.615T>A	c.(613-615)tcT>tcA	p.S205S		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTGTGGGATCTAACTTGATAT	0.403000														190			86		0	0	1	0	0
LRRC59	55379	broad.mit.edu	37	17	48460400	48460400	+	Silent	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:48460400T>A	uc002iqt.3	-	6	1109	c.873A>T	c.(871-873)ctA>ctT	p.L291L		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	Homo sapiens leucine rich repeat containing 59 (LRRC59), mRNA.	291						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CATGGCGGCGTAGACCCTGGA	0.612000														50			13		0	0	1	0	0
GINS3	64785	broad.mit.edu	37	16	58437018	58437018	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:58437018T>C	uc002enh.4	+	1	411	c.203T>C	c.(202-204)cTa>cCa	p.L68P	GINS3_uc010cdj.3_Missense_Mutation_p.L107P|GINS3_uc002enj.4_Intron	NM_022770	NP_073607	Q9BRX5	PSF3_HUMAN	Homo sapiens GINS complex subunit 3 (Psf3 homolog) (GINS3), transcript variant 2, mRNA.	68					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						AAGCTTGAACTACCCTTGTGG	0.453000														71			17		0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5934598	5934598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:5934598G>A	uc001alq.2	-	21	3432	c.3164C>T	c.(3163-3165)cCc>cTc	p.P1055L		NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	1055					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCTCGTGGGGGCGCAGGTA	0.647000														17			4		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5013325	5013325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:5013325G>A	uc001lzv.3	+	4	745	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	243					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D243N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTCAGTGCCGATGATATCCA	0.468000														66			32		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153129835	153129835	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:153129835G>A	uc004fjb.3	-	23	3372	c.3264C>T	c.(3262-3264)atC>atT	p.I1088I	L1CAM_uc004fjc.3_Silent_p.I1088I|L1CAM_uc010nuo.3_Silent_p.I1083I	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1088	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAAACAAGTGGATCTCGTAGT	0.582000														185			49		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56435995	56435995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:56435995G>A	uc010ygg.2	-	2	443	c.418C>T	c.(418-420)Cca>Tca	p.P140S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	140							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)		TCTTGGTTTGGATCTTGGCAT	0.423000														77			19		0	0	1	0	0
DDX28	55794	broad.mit.edu	37	16	68056397	68056397	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:68056397G>A	uc002evh.2	-	0	1374	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	DUS2L_uc002evi.3_5'Flank|DUS2L_uc002evj.3_5'Flank|DUS2L_uc010vkk.2_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 (DDX28), nuclear gene encoding mitochondrial protein, mRNA.	237	Helicase ATP-binding.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CCTCCCTCCAGGTCCCGCACC	0.662000														41			8		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202701030	202701030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:202701030G>A	uc009xag.3	-	24	4171	c.4055C>T	c.(4054-4056)cCt>cTt	p.P1352L	KDM5B_uc001gyf.3_Missense_Mutation_p.P1316L|KDM5B_uc001gyg.1_Missense_Mutation_p.P1158L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1316					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCAGTCATCAGGCAAAGAAAA	0.408000														83			18		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32047033	32047033	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:32047033G>A	uc003nzl.2	-	10	4354	c.4152C>T	c.(4150-4152)tcC>tcT	p.S1384S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1471	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCGAATCAGGGGAGGATCCTG	0.677000														56			86		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30381757	30381757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:30381757C>T	uc002wwp.1	+	13	2314	c.1616C>T	c.(1615-1617)tCg>tTg	p.S539L	TPX2_uc010gdv.1_Missense_Mutation_p.S575L	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	539					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TGCCCTTTCTCGTTTGATTCT	0.443000														105			63		0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161987270	161987270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:161987270C>T	uc010pkq.2	-	2	890	c.466G>A	c.(466-468)Gga>Aga	p.G156R	OLFML2B_uc001gbu.3_Missense_Mutation_p.G156R	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	156										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TAGAACGCTCCTTCCAACATG	0.507000														119			33		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100346857	100346857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:100346857G>A	uc001dsi.1	+	15	2411	c.2011G>A	c.(2011-2013)Gtt>Att	p.V671I	AGL_uc001dsj.1_Missense_Mutation_p.V671I|AGL_uc001dsk.1_Missense_Mutation_p.V671I|AGL_uc001dsl.1_Missense_Mutation_p.V671I|AGL_uc001dsm.1_Missense_Mutation_p.V655I|AGL_uc001dsn.1_Missense_Mutation_p.V654I	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	671					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GATTTCAGTGGTTTCTGAAGA	0.368000														104			28		0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120650760	120650760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:120650760G>A	uc003yos.2	-	1	127	c.41C>T	c.(40-42)tCc>tTc	p.S14F	ENPP2_uc010mdd.2_Missense_Mutation_p.S14F|ENPP2_uc003yot.2_Missense_Mutation_p.S14F	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	14					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTGAACAGGGATATTATCTA	0.398000														138			32		0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89831400	89831400	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:89831400G>A	uc002fou.1	-	27	2718	c.2676C>T	c.(2674-2676)tcC>tcT	p.S892S	FANCA_uc010vpn.1_Silent_p.S892S|FANCA_uc010vpo.2_Silent_p.S21S	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	892					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGGGTCTCCAGGAAAGGCTGG	0.537000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					56			34		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79374011	79374011	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:79374011G>A	uc021yaw.1	+	16	2417	c.2226G>A	c.(2224-2226)ggG>ggA	p.G742G	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	742	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ATCCTGAAGGGGATGCCCAGA	0.592000														17			9		0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13940885	13940885	+	Missense_Mutation	SNP	G	A	A	rs147446446	byFrequency	TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:13940885G>A	uc001avd.3	+	4	738	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	PDPN_uc001avc.3_Missense_Mutation_p.R230Q|PDPN_uc009vob.3_Missense_Mutation_p.R112Q|PDPN_uc009voc.3_Missense_Mutation_p.R112Q|PDPN_uc001ave.3_Missense_Mutation_p.R112Q|PDPN_uc001avf.3_Missense_Mutation_p.R112Q	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	154					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GTGGTTATGCGAAAAATGTCG	0.418000														114			30		0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54140172	54140172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:54140172C>T	uc002qcf.1	+	2	557	c.506C>T	c.(505-507)tCc>tTc	p.S169F		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	169						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ATTTTGGAATCCCAAGTTTGC	0.438000														124			40		0	0	1	0	0
CYBASC3	220002	broad.mit.edu	37	11	61121388	61121388	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:61121388G>A	uc010rlh.2	-	4	1092	c.312C>T	c.(310-312)caC>caT	p.H104H	CYBASC3_uc001nrf.4_Silent_p.H87H|CYBASC3_uc001nrg.3_Silent_p.H87H|CYBASC3_uc009ynn.3_Intron|CYBASC3_uc009yno.2_Silent_p.H87H	NM_001161454	NP_705839	Q8NBI2	CYAC3_HUMAN	Homo sapiens cytochrome b, ascorbate dependent 3 (CYBASC3), transcript variant 1, mRNA.	87	Cytochrome b561.				electron transport chain|transport	integral to membrane|late endosome membrane|lysosomal membrane	metal ion binding|oxidoreductase activity			kidney(1)|large_intestine(3)|lung(2)	6						AGGCCATCAGGTGCAGCGCTG	0.602000														89			35		0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196812524	196812524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:196812524C>T	uc010ial.3	-	16	2123	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	DLG1_uc011bub.2_Missense_Mutation_p.E506K|DLG1_uc011buc.2_Missense_Mutation_p.E506K|DLG1_uc011bud.2_Missense_Mutation_p.E305K|DLG1_uc003fxo.4_Missense_Mutation_p.E622K|DLG1_uc003fxn.4_Missense_Mutation_p.E622K|DLG1_uc011bue.2_Missense_Mutation_p.E589K|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.E589K	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	622	SH3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGCCACCATTCATCATCAGAA	0.453000														106			70		0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48156823	48156823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:48156823C>T	uc010dbm.3	+	20	3072	c.2608C>T	c.(2608-2610)Cca>Tca	p.P870S	ITGA3_uc010dbl.3_Missense_Mutation_p.P870S	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	870					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GCCATCATCCCCACAGCGCAG	0.607000														62			10		0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35450201	35450201	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:35450201G>A	uc002nxh.1	-	3	945	c.558C>T	c.(556-558)aaC>aaT	p.N186N		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCTGATAGGGTTGTGTACGT	0.537000														399			102		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90212098	90212098	+	RNA	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:90212098C>T	uc010yts.2	+	37		c.4785C>T								Parts of antibodies, mostly variable regions.																		TGGCCAGGCTCCCAGGCTCCT	0.592000														78			10		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133780704	133780704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:133780704C>T	uc004bzz.3	-	5	1288	c.1043G>A	c.(1042-1044)gGg>gAg	p.G348E	FIBCD1_uc011mcc.2_Missense_Mutation_p.G348E	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	348	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	p.Y347Y(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCCGAAGCTCCCGTAGCGGGC	0.632000														27			10		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125154627	125154627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:125154627G>A	uc004bmg.1	+	10	1739	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E	PTGS1_uc011lys.1_Missense_Mutation_p.G473E|PTGS1_uc010mwb.1_Missense_Mutation_p.G389E|PTGS1_uc004bmf.1_Missense_Mutation_p.G498E|PTGS1_uc004bmh.1_Missense_Mutation_p.G426E|PTGS1_uc011lyt.1_Missense_Mutation_p.G426E	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	535					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	GGTCTCCTAGGGAATCCCATC	0.517000														53			42		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56485170	56485170	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:56485170G>T	uc002qmh.3	+	6	2758	c.2687G>T	c.(2686-2688)tGt>tTt	p.C896F	NLRP8_uc010etg.3_Missense_Mutation_p.C877F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	896						cytoplasm	ATP binding	p.R895I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CACCTGAGATGTCCTCTGCAG	0.478000														63			51		2.89935e-36	2.99635e-36	1	1	0
HCFC2	29915	broad.mit.edu	37	12	104492131	104492131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:104492131C>T	uc001tkj.4	+	12	1854	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	584	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAAGAGACTCCTTCAAATCCA	0.343000														15			15		0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132888183	132888183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:132888183G>A	uc010nrn.2	-	2	555	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GPC3_uc004exe.2_Missense_Mutation_p.R120C|GPC3_uc011mvh.2_Missense_Mutation_p.R104C|GPC3_uc010nro.2_Missense_Mutation_p.R66C|GPC3_uc010nrp.2_5'UTR	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	120						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TTGGCATGGCGAACAACAATT	0.363000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					125			31		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116435746	116435746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:116435746G>A	uc003vij.3	+	19	4023	c.3836G>A	c.(3835-3837)aGa>aAa	p.R1279K	MET_uc010lkh.3_Missense_Mutation_p.R1297K|MET_uc011knj.2_Missense_Mutation_p.R849K	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1279	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTGATGACAAGAGGAGCCCCA	0.463000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		255			108		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970904	151970904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:151970904C>T	uc003wla.3	-	6	1117	c.898G>A	c.(898-900)Gag>Aag	p.E300K		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	300					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTACATTTCTCTTCACAGCAT	0.423000			N		medulloblastoma									158			5		0	0	1	0	0
SEPT1	1731	broad.mit.edu	37	16	30392692	30392692	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:30392692G>A	uc002dxy.3	-	5	595	c.408C>T	c.(406-408)tgC>tgT	p.C136C	ZNF48_uc021tgi.1_Intron|ZNF48_uc021tgj.1_Intron|SEPT1_uc010veq.1_Silent_p.C183C	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Homo sapiens septin 1 (SEPT1), mRNA.	136					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AGTAGAGGCAGCAGTGGACTC	0.612000														127			27		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353769	45353769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:45353769G>A	uc002xsl.3	+	1	191	c.94G>A	c.(94-96)Gcc>Acc	p.A32T		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	32						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CATATCAGGTGCCCTGCTGCC	0.582000														135			54		0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30577571	30577571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:30577571G>A	uc022bui.1	-	0	902	c.902C>T	c.(901-903)cCa>cTa	p.P301L	CXorf21_uc004dcg.2_Missense_Mutation_p.P301L	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	301										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TCCTCTCTATGGATTTACATT	0.383000														57			24		0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510786	4510786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:4510786C>T	uc001lza.2	+	0	678	c.656C>T	c.(655-657)tCt>tTt	p.S219F		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTTATCCTGTCTTATGTCTTC	0.507000														221			76		0	0	1	0	0
SMS	6611	broad.mit.edu	37	X	21996131	21996131	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:21996131G>T	uc004dag.3	+	5	787	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	SMS_uc011mjq.2_Nonsense_Mutation_p.E91*	NM_004595	NP_004586	P52788	SPSY_HUMAN	Homo sapiens spermine synthase (SMS), mRNA.	187					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	CAGTGGCAAAGAAGATTACAC	0.448000														176			26		4.3181e-19	4.44133e-19	1	1	0
AFM	173	broad.mit.edu	37	4	74354372	74354372	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:74354372T>A	uc003hhb.3	+	6	770	c.739T>A	c.(739-741)Ttc>Atc	p.F247I		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	247	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGTCAAAAATTCCCCAAGAT	0.363000														45			22		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579779	82579779	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:82579779G>A	uc003uhx.2	-	5	10414	c.10125C>T	c.(10123-10125)acC>acT	p.T3375T	PCLO_uc003uhv.2_Silent_p.T3375T|PCLO_uc010lec.3_Silent_p.T340T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3306					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						CAGACTGAACGGTGTACCATC	0.458000														39			7		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100022	110100022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:110100022G>A	uc003ymz.4	+	0	370	c.281G>A	c.(280-282)gGc>gAc	p.G94D		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	94						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGGGTCTATGGCTATGTTGGA	0.478000														131			17		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143029570	143029570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:143029570G>A	uc003wcr.1	+	10	1312	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	CLCN1_uc011ktc.1_Missense_Mutation_p.G71R	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	409					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTTCCCACCAGGAATGGGTCA	0.483000														139			49		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27425431	27425431	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:27425431C>T	uc002hdt.1	-	23	3971	c.3813G>A	c.(3811-3813)gaG>gaA	p.E1271E	MYO18A_uc010wbc.1_Silent_p.E813E|MYO18A_uc002hds.2_Silent_p.E813E|MYO18A_uc010csa.1_Silent_p.E1271E|MYO18A_uc002hdu.1_Silent_p.E1271E|MYO18A_uc010wbd.1_Silent_p.E940E	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1271					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCTCCGCCTTCTCGAGCTTGC	0.637000														37			9		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31421776	31421776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:31421776C>T	uc010cap.1	+	10	1193	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	ITGAD_uc002ebv.1_Missense_Mutation_p.P382S	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	382					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTTCCTGTATCCCCCAAATAT	0.567000														103			63		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321324	79321324	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:79321324G>T	uc010mpk.3	-	7	5990	c.5866C>A	c.(5866-5868)Caa>Aaa	p.Q1956K	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.Q1778K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1956					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACTGCTCTTGGGTAGGTGTT	0.453000														57			59		5.05997e-48	5.24176e-48	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32074126	32074126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:32074126G>A	uc003jhl.3	+	17	3302	c.2914G>A	c.(2914-2916)Gat>Aat	p.D972N	PDZD2_uc003jhm.3_Missense_Mutation_p.D972N|PDZD2_uc011cnx.1_Missense_Mutation_p.D798N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	972					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGATGCCAGTGATGAGGAAGA	0.612000														29			29		0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14622459	14622459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:14622459C>T	uc010neq.3	+	4	1277	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	GLRA2_uc004cwe.4_Missense_Mutation_p.P173S|GLRA2_uc011mio.2_Missense_Mutation_p.P84S|GLRA2_uc010nep.3_Missense_Mutation_p.P173S|GLRA2_uc011mip.2_Missense_Mutation_p.P151S	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	173					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CTTATCCTGTCCCATGGACTT	0.373000														92			50		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679413	100679413	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:100679413C>T	uc003uxp.1	+	2	4769	c.4716C>T	c.(4714-4716)agC>agT	p.S1572S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1572	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)					GTGAAGGAAGCACTCCACTAA	0.493000														391			80		0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99387499	99387499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:99387499C>T	uc001dsb.3	-	3	959	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	LPPR5_uc001dsc.3_Missense_Mutation_p.R246Q	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA.	246						integral to membrane	hydrolase activity										CCAATGATTTCGATATTCTGC	0.363000														87			46		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45513944	45513944	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:45513944C>T	uc002zea.3	+	20	3167	c.2998_splice	c.e20-1	p.P1000_splice	TRAPPC10_uc010gpo.3_Splice_Site_p.P711_splice|TRAPPC10_uc011afa.2_Splice_Site_p.P378_splice|TRAPPC10_uc011afb.1_Splice_Site_p.P105_splice	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1000					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CTCTTTCCAGCCCATCTACAG	0.552000														84			60		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52966383	52966383	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:52966383C>T	uc001sap.1	-	1	588	c.540G>A	c.(538-540)ctG>ctA	p.L180L		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	180	Linker 1.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGCAGTTGTTCAGGTCCAGCT	0.557000														58			32		0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74329801	74329801	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:74329801C>T	uc001ovf.1	+	5	687	c.612C>T	c.(610-612)acC>acT	p.T204T	POLD3_uc009yua.1_Silent_p.T98T	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.	204					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CTGCTAAAACCCAAGAAACCA	0.463000														17			17		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100463203	100463203	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:100463203G>A	uc003huw.3	+	8	1379	c.1017G>A	c.(1015-1017)agG>agA	p.R339R	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	339										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TGTCAGCAAGGAGTATACAAG	0.418000														62			15		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173315	126173315	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:126173315G>A	uc003vlr.2	-	7	2432	c.2121C>T	c.(2119-2121)ctC>ctT	p.L707L	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.L707L|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	707					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)	ACACTCCAAGGAGCTGGACGG	0.522000										HNSCC(24;0.065)				51			20		0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56864630	56864630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:56864630G>A	uc003xsk.4	+	6	875	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	LYN_uc003xsl.4_Missense_Mutation_p.R177Q	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	198	SH2.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ATCTCTCCACGAATCACTTTT	0.358000														35			18		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128049	152128049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:152128049G>A	uc001ezs.1	-	2	1591	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	509	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAGTGGGAACTTTGGCC	0.502000														670			147		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37597944	37597945	+	Silent	DNP	CC	TT	TT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:37597944_37597945CC>TT	uc002yvg.3	+	11	1531_1532	c.1452_1453CC>TT	c.(1450-1455)ttcctg>ttTTtg	p.484_485FL>FL	DOPEY2_uc011aeb.2_Silent_p.484_485FL>FL	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	484					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCTGGTCTTCCTGCTGGATGT	0.530000														71			18		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22158151	22158152	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:22158151_22158152GG>AA	uc009vqd.3	-	81	11388_11389	c.11348_11349CC>TT	c.(11347-11349)acc>aTT	p.T3783I	HSPG2_uc001bfi.3_5'Flank|HSPG2_uc001bfj.3_Missense_Mutation_p.T3782I	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3782	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCACCTGGGAGGTCCCATTGAC	0.649000														9			4		0	0	1	0	0
FBXL19	54620	broad.mit.edu	37	16	30941555	30941555	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:30941555G>A	uc002eab.2	+	6	1169	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S	FBXL19_uc002dzz.1_Silent_p.S25S|FBXL19_uc002eaa.1_Silent_p.S236S	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA.	337	Ser-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCGACTCTTCGGGCACATCGC	0.672000														85			21		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137263039	137263039	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:137263039G>A	uc003vtt.3	-	15	1676	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	DGKI_uc003vtu.3_Nonsense_Mutation_p.R259*	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	559					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R559*(3)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTTTATTTCGAAAACGACTG	0.338000														45			16		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230903339	230903339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:230903339G>A	uc001htz.1	+	4	702	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	CAPN9_uc009xfg.1_Missense_Mutation_p.E134K|CAPN9_uc001hua.1_Missense_Mutation_p.E197K	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	197	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CGAGGCCATGGAAGACTTCAC	0.552000														68			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466788	179466788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:179466788C>T	uc021vsy.1	-	232	47731	c.47506G>A	c.(47506-47508)Gga>Aga	p.G15836R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G9531R|TTN_uc021vta.1_Missense_Mutation_p.G9464R|TTN_uc021vtb.1_Missense_Mutation_p.G9339R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16763	Fibronectin type-III 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G15836R(2)|p.G9339R(1)|p.G9464R(1)|p.G9531R(1)		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)			GTTGGGCGTCCCTTGATGACA	0.423000														102			45		0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77924270	77924270	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:77924270G>A	uc002jxj.3	-	5	1313	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	TBC1D16_uc002jxh.3_Silent_p.S37S|TBC1D16_uc002jxi.3_Silent_p.S38S|TBC1D16_uc002jxk.1_Silent_p.S37S	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	399						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TGAGCCAGGCGGAGACGCCGA	0.667000														18			9		0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217915408	217915408	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:217915408C>T	uc001hlh.1	+	5	513	c.487C>T	c.(487-489)Cga>Tga	p.R163*	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	163						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTACCAAGCCCGAAAGATGCA	0.473000														83			17		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11292836	11292836	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:11292836C>T	uc001mjo.2	-	11	2099	c.1678_splice	c.e11-1	p.G560_splice		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	560	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GATGGGTCCTCCCTAGGGGCC	0.592000														122			50		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32101292	32101292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:32101292G>A	uc003jhl.3	+	23	8688	c.8300G>A	c.(8299-8301)gGa>gAa	p.G2767E	PDZD2_uc003jhm.3_Missense_Mutation_p.G2767E|PDZD2_uc003jhn.3_Non-coding_Transcript	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2767	PDZ 6.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGGATGGGGGAAAATCATCG	0.522000														49			58		0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27363900	27363900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:27363900C>T	uc002don.3	+	6	795	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	IL4R_uc002dom.3_Missense_Mutation_p.R185C|IL4R_uc002dop.4_Missense_Mutation_p.R170C|IL4R_uc010bxy.3_Missense_Mutation_p.R185C|IL4R_uc002doo.3_Missense_Mutation_p.R25C	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	185	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						ACCCTCCCTCCGCATCGCAGC	0.602000														91			67		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666354	20666354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:20666354C>T	uc010tlb.2	+	0	860	c.860C>T	c.(859-861)tCa>tTa	p.S287L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V286V(1)		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)		GCTGTGGTTTCACTGTTCTAC	0.512000														75			74		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24201052	24201052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:24201052G>A	uc003xdy.3	+	17	2028	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.E336K	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	649	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCAATGTGAGGAAGGATGGAT	0.512000														74			31		0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148594831	148594831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:148594831G>A	uc003ilc.3	-	2	675	c.533C>T	c.(532-534)tCc>tTc	p.S178F	PRMT10_uc003ild.3_Missense_Mutation_p.S65F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	178						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AACACTTTTGGACCCCAAACA	0.363000														49			12		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74631651	74631651	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:74631651T>G	uc002axt.2	-	6	1318	c.1163A>C	c.(1162-1164)cAc>cCc	p.H388P	CYP11A1_uc002axs.2_Missense_Mutation_p.H230P|CYP11A1_uc010bjm.1_Missense_Mutation_p.H230P|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	388					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	p.H388Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGAGATGGGGTGAAGTCTGCG	0.582000														45			31		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415180	121415180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:121415180G>A	uc010hrc.3	-	12	4316	c.4190C>T	c.(4189-4191)cCt>cTt	p.P1397L	GOLGB1_uc003eei.4_Missense_Mutation_p.P1392L|GOLGB1_uc003eej.4_Missense_Mutation_p.P1358L|GOLGB1_uc021xcy.1_Missense_Mutation_p.P1317L|GOLGB1_uc011bjm.1_Missense_Mutation_p.P1278L|GOLGB1_uc010hrd.1_Missense_Mutation_p.P1356L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1392					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATCCAGTTTAGGTTGCAATTC	0.418000														112			31		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167334138	167334138	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:167334138C>T	uc002udu.2	-	1	199	c.69G>A	c.(67-69)caG>caA	p.Q23Q	SCN7A_uc010fpm.2_Non-coding_Transcript|SCN7A_uc002udv.1_Silent_p.Q23Q	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	23					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TAGCAATATGCTGTTTTATAA	0.358000														11			3		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587523	42587523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:42587523C>T	uc003xpi.1	+	4	1201	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	358					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGCTACTCATCCCCAGAGAAA	0.438000														40			8		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60483847	60483847	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:60483847C>T	uc010wpc.2	+	8	722	c.651C>T	c.(649-651)ttC>ttT	p.F217F	EFCAB3_uc002izu.2_Silent_p.F165F	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	165							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAAGCTATTTCCAAAGAAAAT	0.363000														14			3		0	0	1	0	0
HELT	391723	broad.mit.edu	37	4	185940832	185940832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:185940832C>T	uc011ckq.2	+	2	319	c.319C>T	c.(319-321)Ctc>Ttc	p.L107F	HELT_uc011cko.2_Intron|HELT_uc003ixa.3_Intron|HELT_uc011ckp.1_5'UTR	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	Homo sapiens helt bHLH transcription factor (HELT), mRNA.	107	Helix-loop-helix motif.						DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTCGCTGGTCCTCTCCAGCGC	0.706000														12			4		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23326294	23326295	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:23326294_23326295GG>TA	uc001irm.4	+	18	2588_2589	c.2505_2506GG>TA	c.(2503-2508)aaggga>aaTAga	p.835_836KG>NR	ARMC3_uc010qcv.2_Missense_Mutation_p.828_829KG>NR|ARMC3_uc010qcw.2_Missense_Mutation_p.572_573KG>NR	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	835							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACTCTCGGAAGGGAGTGATTGG	0.525000														54			38		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89925337	89925337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:89925337G>A	uc003kju.3	+	8	1916	c.1820G>A	c.(1819-1821)gGa>gAa	p.G607E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	607					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		cttcaaaatggagctcacttt	0.308000														24			18		0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122068286	122068286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:122068286C>T	uc021xrj.1	-	9	963	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	TNIP3_uc010ing.3_Missense_Mutation_p.R218Q|TNIP3_uc011cgj.2_Missense_Mutation_p.R288Q	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	218										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGTCTCTCTCGATCCGATCG	0.373000														54			19		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9016488	9016488	+	Silent	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:9016488T>C	uc001quz.4	+	28	3699	c.3601T>C	c.(3601-3603)Ttg>Ctg	p.L1201L	A2ML1_uc001qva.1_Silent_p.L781L|A2ML1_uc010sgm.2_Silent_p.L701L	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	1045						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGCATATGCATTGTTGGCCCA	0.527000														75			19		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113333614	113333614	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:113333614G>A	uc010syl.2	+	20	2252	c.1890G>A	c.(1888-1890)ctG>ctA	p.L630L	RPH3A_uc001ttz.3_Silent_p.L630L|RPH3A_uc001tty.3_Silent_p.L626L|RPH3A_uc010sym.2_Silent_p.L581L|RPH3A_uc001tua.3_Silent_p.L390L	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	630	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACAGTGACCTGGCAAAGAAGT	0.473000														54			28		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950648	38950648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:38950648G>A	uc003jlo.2	-	30	3324	c.3302C>T	c.(3301-3303)tCg>tTg	p.S1101L	RICTOR_uc003jlp.2_Missense_Mutation_p.S1101L|RICTOR_uc010ivf.2_Missense_Mutation_p.S816L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1101					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding	p.S1101L(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CAAAGTAAGCGAATTTAAGAT	0.368000														57			25		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9404487	9404487	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:9404487C>T	uc021wam.1	+	23	2391	c.2376C>T	c.(2374-2376)ctC>ctT	p.L792L	PLCB4_uc010gbw.1_Silent_p.L792L|PLCB4_uc010gbx.3_Silent_p.L804L|PLCB4_uc021wal.1_Silent_p.L792L|PLCB4_uc002wnh.3_Silent_p.L639L	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	792					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						TTGATGGCCTCCAAGCCGGAT	0.448000														33			18		0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143787204	143787204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:143787204G>A	uc010fnm.3	+	11	1127	c.911G>A	c.(910-912)gGa>gAa	p.G304E	KYNU_uc002tvl.3_Missense_Mutation_p.G304E	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	304					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGATTAGTGGGATGGTTTGGC	0.363000														50			10		0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:2062350C>G	uc001qjx.1	-	6	836	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_uc010sdy.1_Missense_Mutation_p.Q150H	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(16)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000														57			3		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73724492	73724492	+	Silent	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:73724492T>C	uc002jpg.3	+	5	691	c.504T>C	c.(502-504)acT>acC	p.T168T	ITGB4_uc002jph.3_Silent_p.T168T|ITGB4_uc010dgo.3_Silent_p.T168T|ITGB4_uc002jpi.4_Silent_p.T168T|ITGB4_uc010dgp.1_Silent_p.T168T|ITGB4_uc002jpj.3_Silent_p.T168T	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	168	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGACTACACTATTGGATTTG	0.582000														74			15		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123028725	123028725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:123028725C>T	uc001ucv.3	+	7	741	c.578C>T	c.(577-579)tCc>tTc	p.S193F	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	193					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CAAATCAAGTCCAGTTTTATT	0.308000														48			30		0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36500337	36500337	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:36500337G>A	uc021wdj.1	+	15	1705	c.1614G>A	c.(1612-1614)gaG>gaA	p.E538E	CTNNBL1_uc002xhh.3_Silent_p.E351E|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Silent_p.E286E	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	538					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AGTATGCAGAGAACATCGGGG	0.597000														69			39		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133219876	133219876	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:133219876G>A	uc001uks.1	-	34	4529	c.4485C>T	c.(4483-4485)gcC>gcT	p.A1495A	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.A299A|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.A1468A	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1495					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCGCTTTGTGGGCCTGTGCGT	0.597000								DNA polymerases (catalytic subunits)						77			20		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10980040	10980040	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:10980040G>A	uc003bvz.3	+	13	1885	c.1851G>A	c.(1849-1851)aaG>aaA	p.K617K		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	617					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CCAAACTCAAGAGTGACGGGA	0.557000														134			33		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027131	37027131	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:37027131G>A	uc004ddl.2	+	0	700	c.648G>A	c.(646-648)gaG>gaA	p.E216E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	216										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						AGCCTCCAGAGACTGGAGTGT	0.662000														66			16		0	0	1	0	0
MRPL50	54534	broad.mit.edu	37	9	104152888	104152888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:104152888G>A	uc004bbe.2	-	1	382	c.337C>T	c.(337-339)Cct>Tct	p.P113S	MRPL50_uc011lvj.2_Missense_Mutation_p.P113S	NM_019051	NP_061924	Q8N5N7	RM50_HUMAN	Homo sapiens mitochondrial ribosomal protein L50 (MRPL50), nuclear gene encoding mitochondrial protein, mRNA.	113						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				CTGGAGTTAGGGACTACATGA	0.413000														27			31		0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67633822	67633822	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:67633822C>T	uc001ddo.3	+	1	104	c.19C>T	c.(19-21)Caa>Taa	p.Q7*	IL23R_uc009waz.3_5'UTR|IL23R_uc001ddp.2_5'Flank|IL23R_uc010opi.2_5'Flank|IL23R_uc010opj.2_5'Flank|IL23R_uc010opk.2_5'Flank|IL23R_uc010opl.2_5'Flank|IL23R_uc010opm.2_5'Flank|IL23R_uc001ddq.3_5'Flank|IL23R_uc010opn.2_5'Flank|IL23R_uc001ddr.3_5'Flank	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	7					inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GGTCACTATTCAATGGGATGC	0.328000														157			23		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916422	10916422	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:10916422G>A	uc002yip.1	-	19	1592	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Silent_p.L390L|TPTE_uc002yir.1_Silent_p.L370L|TPTE_uc010gkv.1_Silent_p.L270L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	408					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R408H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCTTGGAGGGAGATTCCAGT	0.363000														115			6		0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24608280	24608280	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:24608280C>A	uc004dbi.3	-	3	579	c.346G>T	c.(346-348)Gat>Tat	p.D116Y	PCYT1B_uc004dbk.4_Missense_Mutation_p.D116Y|PCYT1B_uc004dbj.3_Missense_Mutation_p.D98Y	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	116	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TGGGTGAGATCATCACTGCAA	0.483000														55			26		7.16026e-08	7.28662e-08	1	1	0
HAL	3034	broad.mit.edu	37	12	96387922	96387922	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:96387922G>A	uc001tem.1	-	4	654	c.357C>T	c.(355-357)gaC>gaT	p.D119D	HAL_uc010sux.1_Silent_p.D119D|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	119					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TGGTCAGACGGTCTCCATCTA	0.483000														247			54		0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152958983	152958983	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:152958983C>T	uc004fib.3	+	6	1361	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	SLC6A8_uc004fic.3_Silent_p.S351S|SLC6A8_uc011myx.1_Silent_p.S246S|SLC6A8_uc010nuj.2_Non-coding_Transcript	NM_005629	NP_001136278	P48029	SC6A8_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	361					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TGGTCTTCTCCATCCTGGGCT	0.627000														99			27		0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869563	151869563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:151869563G>A	uc022chf.1	+	0	253	c.253G>A	c.(253-255)Gag>Aag	p.E85K	MAGEA6_uc004ffq.1_Missense_Mutation_p.E85K|MAGEA6_uc004ffr.1_Missense_Mutation_p.E85K	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	85							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCAATCCTATGAGGACTCCAG	0.587000														57			19		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40364229	40364229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:40364229C>T	uc002omp.4	-	30	14421	c.14413G>A	c.(14413-14415)Gag>Aag	p.E4805K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4805						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)			TAGAAGACCTCGCCCAGTGGG	0.657000														54			13		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71220684	71220684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:71220684C>T	uc002ezr.3	-	1	266	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.E39K|HYDIN_uc010vmc.2_Missense_Mutation_p.E56K|HYDIN_uc010vmd.2_Missense_Mutation_p.E66K|HYDIN_uc002ezw.4_Missense_Mutation_p.E56K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	39										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)				ACTTCTTCTTCTGTAACCACC	0.413000														40			33		0	0	1	0	0
CD37	951	broad.mit.edu	37	19	49842093	49842093	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:49842093A>G	uc002pnd.3	+	5	705	c.584A>G	c.(583-585)aAg>aGg	p.K195R	AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_Missense_Mutation_p.K195R|CD37_uc010yan.1_Missense_Mutation_p.K127R|CD37_uc002pnf.3_Missense_Mutation_p.K167R|CD37_uc002pne.3_Missense_Mutation_p.K127R	NM_001774	NP_001035120	P11049	CD37_HUMAN	Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA.	195						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		ATCCTAGATAAGGTGATCTTG	0.602000														155			25		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158812179	158812179	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:158812179T>C	uc001fsz.1	+	1	436	c.236T>C	c.(235-237)gTt>gCt	p.V79A		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	79	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAAAACCTTGTTAACAATCTT	0.388000														75			46		0	0	1	0	0
CCL23	6368	broad.mit.edu	37	17	34344887	34344887	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:34344887G>A	uc002hkt.1	-	0	119	c.48C>T	c.(46-48)gcC>gcT	p.A16A	CCL23_uc002hks.1_Silent_p.A16A	NM_145898	NP_665905	P55773	CCL23_HUMAN	Homo sapiens chemokine (C-C motif) ligand 23 (CCL23), transcript variant CKbeta8, mRNA.	16				MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1).	G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	GGGATCCAAGGGCAGTAACAA	0.587000														46			19		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099418	168099418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:168099418C>T	uc002udx.3	+	8	1605	c.1516C>T	c.(1516-1518)Cat>Tat	p.H506Y	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.H331Y|XIRP2_uc010fpq.3_Missense_Mutation_p.H284Y|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	331					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAACACATCCATCCTGAGTT	0.368000														29			13		0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95499310	95499310	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:95499310G>A	uc003uoc.4	+	6	818	c.541_splice	c.e6+1	p.E181_splice	DYNC1I1_uc003uod.4_Splice_Site_p.E164_splice|DYNC1I1_uc003uob.3_Splice_Site_p.E144_splice|DYNC1I1_uc003uoe.4_Splice_Site_p.E161_splice|DYNC1I1_uc010lfl.3_Splice_Site_p.E170_splice	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	181					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCAGTCTGAAGGTAAACTATG	0.453000														19			8		0	0	1	0	0
MIER3	166968	broad.mit.edu	37	5	56242797	56242797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:56242797C>T	uc003jrc.1	-	2	176	c.151G>A	c.(151-153)Gat>Aat	p.D51N	MIER3_uc003jrd.1_Missense_Mutation_p.D46N|MIER3_uc003jra.1_Missense_Mutation_p.D46N|MIER3_uc003jrb.1_5'UTR|MIER3_uc003jre.3_Non-coding_Transcript|MIER3_uc003jrf.3_Non-coding_Transcript|MIER3_uc003jrg.3_Non-coding_Transcript	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	Homo sapiens mesoderm induction early response 1, family member 3 (MIER3), mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TTACCCTCATCCATCATTTCC	0.338000														15			12		0	0	1	0	0
TMEM92	162461	broad.mit.edu	37	17	48356278	48356278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:48356278G>A	uc002iqn.2	+	4	397	c.287G>A	c.(286-288)gGg>gAg	p.G96E	TMEM92_uc021tzz.1_Missense_Mutation_p.G96E	NM_001168215	NP_694961	Q6UXU6	TMM92_HUMAN	Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA.	96	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						GATTGCCGGGGGCCCCTGGAA	0.617000														47			19		0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91528083	91528083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:91528083C>T	uc001kgs.1	+	29	5098	c.5026C>T	c.(5026-5028)Ccc>Tcc	p.P1676S	KIF20B_uc001kgr.1_Missense_Mutation_p.P1636S|KIF20B_uc001kgt.1_Missense_Mutation_p.P887S|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1676	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAATGCTACACCCAGAACTAA	0.284000														29			20		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762310	101762310	+	Silent	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:101762310G>T	uc001pgl.3	-	8	1463	c.867C>A	c.(865-867)ctC>ctA	p.L289L		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	289	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CTTCTTTTTTGAGACCCCGGA	0.358000														45			6		2.0095e-06	2.04016e-06	1	1	0
ANGPTL5	253935	broad.mit.edu	37	11	101762312	101762312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:101762312G>A	uc001pgl.3	-	8	1461	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	289	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TCTTTTTTGAGACCCCGGAAT	0.363000														44			5		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401153	10401153	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:10401153C>T	uc002gmo.3	-	30	4357	c.4263G>A	c.(4261-4263)acG>acA	p.T1421T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1421						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCTCTGCTTCGTCTTCTCAA	0.473000														57			21		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31734980	31734980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:31734980C>T	uc011dog.2	-	12	2075	c.1837G>A	c.(1837-1839)Gat>Aat	p.D613N	VWA7_uc003nxd.2_Missense_Mutation_p.D288N	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	613						extracellular region											TGGGGTCCATCCTCCATGGGG	0.542000														15			13		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93067372	93067372	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:93067372C>T	uc003umv.2	-	13	1332	c.1032_splice	c.e13+1	p.V344_splice	CALCR_uc003umt.1_Splice_Site|CALCR_uc003ums.1_Splice_Site|CALCR_uc022ahi.1_Splice_Site_p.V310_splice|CALCR_uc003umw.2_Splice_Site_p.V310_splice	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	326					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)	TAATTCTCACCACAAGTGCCG	0.348000														56			19		0	0	1	0	0
CBX7	23492	broad.mit.edu	37	22	39530693	39530693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:39530693G>A	uc003axb.3	-	4	400	c.311C>T	c.(310-312)tCc>tTc	p.S104F	CBX7_uc003axc.3_Intron	NM_175709	NP_783640	O95931	CBX7_HUMAN	Homo sapiens chromobox homolog 7 (CBX7), mRNA.	104					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					GCACGTCAGGGAGAAGCAGAG	0.701000														9			5		0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823836	70823836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:70823836G>A	uc004eae.2	+	7	1210	c.709G>A	c.(709-711)Gac>Aac	p.D237N	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	237	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGTTCCCGACGACAGCAGTGA	0.537000														381			90		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2432706	2432706	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:2432706G>A	uc010qxl.2	-	17	2667	c.2658C>T	c.(2656-2658)gcC>gcT	p.A886A	TRPM5_uc001lwm.4_Silent_p.A886A|TRPM5_uc009ydn.3_Silent_p.A888A	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	886						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGACACCGTAGGCCACGAGCC	0.662000														49			18		0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793362	53793362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:53793362C>T	uc002qbk.3	-	0	1514	c.266G>A	c.(265-267)gGa>gAa	p.G89E		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	89					apoptosis		zinc ion binding	p.E88E(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)		TACCAGAGCTCCCTCAAGTGA	0.393000														82			40		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67682059	67682059	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:67682059G>A	uc002etn.3	+	13	1296	c.1176G>A	c.(1174-1176)tgG>tgA	p.W392*	RLTPR_uc010cel.1_Nonsense_Mutation_p.W392*|RLTPR_uc010vjr.2_Intron	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	392										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGGGGGATGGATGACCGGCA	0.672000														69			21		0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	130011452	130011453	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:130011452_130011453CC>TT	uc010sby.2	+	15	2176_2177	c.2019_2020CC>TT	c.(2017-2022)ggcctc>ggTTtc	p.L674F	APLP2_uc001qfp.3_Missense_Mutation_p.L662F|APLP2_uc001qfq.3_Missense_Mutation_p.L606F|APLP2_uc010sbz.2_Missense_Mutation_p.L462F|APLP2_uc001qfr.3_Missense_Mutation_p.L428F|APLP2_uc001qfs.3_Missense_Mutation_p.L433F|APLP2_uc021qsg.1_Missense_Mutation_p.L672F|APLP2_uc001qfv.3_Missense_Mutation_p.L565F|APLP2_uc009zcv.3_Missense_Mutation_p.L22F	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	674					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GAGTTGGAGGCCTCGAGGAAGA	0.480000														75			22		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32172159	32172160	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:32172159_32172160GG>AA	uc003obb.3	-	18	3011_3012	c.2872_2873CC>TT	c.(2872-2874)cca>TTa	p.P958L	NOTCH4_uc003oba.3_5'Flank|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	958	EGF-like 24.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATCGTAGCCTGGGGCACACTGC	0.545000														37			56		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52378654	52378655	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:52378654_52378655CC>TT	uc011bef.2	+	8	1696_1697	c.1435_1436CC>TT	c.(1435-1437)cct>TTt	p.P479F	DNAH1_uc003ddt.1_Missense_Mutation_p.P479F	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	479	Stem (By similarity).				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)		GGAGCAGGTGCCTGAGCGAGGT	0.599000														18			4		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64518921	64518921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:64518921C>T	uc003dmg.3	-	37	5671	c.5639G>A	c.(5638-5640)gGa>gAa	p.G1880E	ADAMTS9_uc011bfo.2_Missense_Mutation_p.G1852E|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G791E	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1880	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAAGCCGGTTCCATAAAGGTT	0.428000														44			17		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93141478	93141478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:93141478G>A	uc001pdq.3	+	11	1508	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	CCDC67_uc001pdo.1_Missense_Mutation_p.D470N	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	470										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GCTCCGAAATGATCTTGCAAA	0.348000														6			3		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	122004357	122004357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:122004357G>A	uc004bkc.2	-	3	1003	c.547C>T	c.(547-549)Cat>Tat	p.H183Y	DBC1_uc004bkd.2_Missense_Mutation_p.H183Y	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	183	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TGGATCTCATGAAGCCTCCTC	0.502000														55			45		0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41388010	41388010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:41388010C>T	uc002opm.3	-	0	648	c.106G>A	c.(106-108)Gga>Aga	p.G36R	CYP2A7_uc002opo.3_Intron|CYP2A7_uc002opn.3_Missense_Mutation_p.G36R	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	36						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGGTGGGTCCCGGAGGCAGC	0.587000														84			24		0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9757669	9757669	+	Silent	SNP	C	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:9757669C>A	uc021wst.1	+	13	1005	c.834C>A	c.(832-834)ctC>ctA	p.L278L	CPNE9_uc003bsd.3_Silent_p.L277L	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	278										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TGACGCTGCTCTCCTTCTCTG	0.532000											OREG0015381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			5		8.12818e-05	8.21364e-05	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106814745	106814745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:106814745C>T	uc003ymd.3	+	7	2458	c.2435C>T	c.(2434-2436)tCc>tTc	p.S812F	ZFPM2_uc011lhs.2_Missense_Mutation_p.S543F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	812					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	p.S812fs*1(2)		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)			GTTCCAGTTTCCAAATGTGAT	0.458000														17			4		0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117063026	117063026	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:117063026C>T	uc001pqg.2	+	20	2033	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	SIDT2_uc010rxe.1_Silent_p.I643I|SIDT2_uc001pqh.1_Silent_p.I643I|SIDT2_uc001pqi.1_Silent_p.I640I	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	643						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTCACATCATCGCCACCCTGC	0.637000														106			62		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78423683	78423683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:78423683G>A	uc001ozl.4	-	25	4361	c.3898C>T	c.(3898-3900)Cgg>Tgg	p.R1300W		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1300					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AAGACCCGCCGGCTGTTGCTG	0.532000														68			39		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896704	175896704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:175896704C>T	uc003iuc.3	+	4	698	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	ADAM29_uc003iud.3_Missense_Mutation_p.L10F|ADAM29_uc010irr.3_Missense_Mutation_p.L10F|ADAM29_uc011cki.2_Missense_Mutation_p.L10F|ADAM29_uc021xuo.1_Missense_Mutation_p.L10F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	10					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)		GCTGCATTGCCTTGGGGTGTT	0.488000														96			18		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9579841	9579841	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:9579841G>A	uc002mlp.1	-	8	762	c.552C>T	c.(550-552)acC>acT	p.T184T	ZNF560_uc010dwr.1_Silent_p.T78T	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	184					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						CTGGCCCTTTGGTTTTCAGGC	0.303000														5			7		0	0	1	0	0
C12orf45	121053	broad.mit.edu	37	12	105380177	105380177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:105380177C>T	uc001tlb.3	+	0	80	c.47C>T	c.(46-48)cCc>cTc	p.P16L		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	Homo sapiens chromosome 12 open reading frame 45 (C12orf45), mRNA.	16										large_intestine(1)|lung(2)	3						TGTTCGTCGCCCACCCGGGAT	0.657000														9			14		0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288963	98288963	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:98288963G>A	uc003yhy.3	-	0	1214	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	370					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					ACAATTCTTCGTTGATTATCT	0.468000														186			49		0	0	1	0	0
HN1L	90861	broad.mit.edu	37	16	1741881	1741881	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:1741881C>T	uc010uvi.2	+	3	351	c.315C>T	c.(313-315)ccC>ccT	p.P105P	HN1L_uc002cmg.3_Silent_p.P77P|HN1L_uc010brt.3_Non-coding_Transcript|HN1L_uc010bru.3_Intron|HN1L_uc010uvj.2_Intron|HN1L_uc010uvk.2_Silent_p.P64P	NM_144570	NP_653171	Q9H910	HN1L_HUMAN	Homo sapiens hematological and neurological expressed 1-like (HN1L), mRNA.	77						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						AATCAACCCCCGTGCAGACTC	0.572000														80			28		0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857585	124857585	+	Missense_Mutation	SNP	C	A	A	rs112861775		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:124857585C>A	uc001qbm.4	+	7	1722	c.1463C>A	c.(1462-1464)cCc>cAc	p.P488H		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	488						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCCCAAAGACCAA	0.403000														130			5		0.184627	0.184841	1	1	0
NSFL1C	55968	broad.mit.edu	37	20	1447409	1447410	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:1447409_1447410CC>TT	uc002wfc.3	-	0	928_929	c.60_61GG>AA	c.(58-63)gaggac>gaAAac	p.D21N	NSFL1C_uc021vzq.1_5'UTR|NSFL1C_uc002wfe.3_Missense_Mutation_p.D21N	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	21						Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CGGGCCCGGTCCTCCTCGGCGC	0.757000														6			5		0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110726051	110726051	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:110726051G>A	uc003puc.3	-	3	472	c.468C>T	c.(466-468)ccC>ccT	p.P156P	METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Intron	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	128					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		ACACATACTGGGGGAATTTCT	0.483000														25			16		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25297916	25297916	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:25297916C>T	uc003abg.2	+	20	3049	c.2892C>T	c.(2890-2892)atC>atT	p.I964I	SGSM1_uc010guu.1_Silent_p.I909I|SGSM1_uc003abh.2_Silent_p.I903I|SGSM1_uc003abj.2_Silent_p.I848I|SGSM1_uc003abi.1_Silent_p.I884I	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	964	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGCGTAACATCATGTGCAGGT	0.592000														11			11		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97081768	97081768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:97081768G>A	uc001kkp.3	-	28	3695	c.3650C>T	c.(3649-3651)gCc>gTc	p.A1217V	SORBS1_uc001kkk.3_Missense_Mutation_p.A473V|SORBS1_uc001kkl.3_Missense_Mutation_p.A561V|SORBS1_uc001kkn.3_Missense_Mutation_p.A724V|SORBS1_uc001kkm.3_Missense_Mutation_p.A759V|SORBS1_uc001kko.3_Missense_Mutation_p.A1076V|SORBS1_uc001kkq.3_Missense_Mutation_p.A830V|SORBS1_uc001kkr.3_Missense_Mutation_p.A665V|SORBS1_uc001kks.3_Missense_Mutation_p.A609V|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Missense_Mutation_p.A706V|SORBS1_uc001kkv.3_Missense_Mutation_p.A741V|SORBS1_uc001kkw.3_Missense_Mutation_p.A1191V|SORBS1_uc010qoe.2_Missense_Mutation_p.A674V	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1217					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	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			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)		TCGCTGCTGGGCTTGAGGTTG	0.453000														52			38		0	0	1	0	0
NDUFAF5	79133	broad.mit.edu	37	20	13779129	13779129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:13779129C>T	uc002wom.3	+	5	545	c.502C>T	c.(502-504)Cct>Tct	p.P168S	NDUFAF5_uc002woo.3_Non-coding_Transcript|NDUFAF5_uc002won.3_Missense_Mutation_p.P140S	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN	Homo sapiens chromosome 20 open reading frame 7 (C20orf7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	168					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										GAATGACCTTCCTAGAGCACT	0.299000														65			19		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22575649	22575649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:22575649C>T	uc002nqt.2	-	3	510	c.388G>A	c.(388-390)Gat>Aat	p.D130N		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTACACTCATCCATGCTTTTA	0.308000														28			6		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79351571	79351571	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:79351571G>A	uc003hlb.2	+	37	5409	c.4969_splice	c.e37+1	p.G1657_splice	FRAS1_uc003hkw.3_Splice_Site_p.G1657_splice|FRAS1_uc010ijj.2_Splice_Site_p.G77_splice	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1656					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATGGCCACAGGTAGCTACAC	0.493000														18			5		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851465	34851465	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:34851465C>T	uc003teh.1	+	3	596	c.468C>T	c.(466-468)ttC>ttT	p.F156F	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.F156F|NPSR1_uc010kwt.1_Silent_p.F3F|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.F156F|NPSR1_uc010kww.1_Silent_p.F145F|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	156						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCATGAAGTTCCTTCAAGGAG	0.443000														117			68		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13817805	13817805	+	Splice_Site	SNP	T	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:13817805T>G	uc003jfd.2	-	42	6884	c.6842_splice	c.e42-1	p.D2281_splice		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2281	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCCACAATCTATACCAAGTA	0.438000									Kartagener syndrome					38			36		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409706	130409706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:130409706G>A	uc004ewe.4	-	15	3228	c.2945C>T	c.(2944-2946)cCc>cTc	p.P982L	IGSF1_uc004ewd.3_Missense_Mutation_p.P977L|IGSF1_uc022cdv.1_Missense_Mutation_p.P968L|IGSF1_uc004ewf.2_Missense_Mutation_p.P957L	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	977	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACAGAACTGGGCTCAGCAAA	0.468000														166			120		0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39191380	39191380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:39191380G>A	uc003gtv.3	+	3	423	c.269G>A	c.(268-270)aGc>aAc	p.S90N	WDR19_uc010ifl.1_5'UTR|WDR19_uc003gtu.1_Missense_Mutation_p.S90N|WDR19_uc011byi.2_5'UTR	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	90					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AATAAGACCAGCCAGTTAGAC	0.363000														40			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600532	179600532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:179600532C>T	uc021vsy.1	-	46	11134	c.10909G>A	c.(10909-10911)Gag>Aag	p.E3637K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E298K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4564	Ig-like 22.		P -> S (in dbSNP:rs2627037).				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)			ATGATCAACTCTGCTTGGCAG	0.393000														25			12		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649560	20649560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:20649560C>T	uc001ytg.3	-	17	2658	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.G650E|HERC2P3_uc010tyy.2_Missense_Mutation_p.G650E					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.									p.G650E(2)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GTCGTAATTTCCTTCTTTCCC	0.592000														106			51		0	0	1	0	0
SERPINE3	647174	broad.mit.edu	37	13	51918395	51918395	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:51918395G>A	uc001vfh.2	+	1	324	c.264G>A	c.(262-264)agG>agA	p.R88R	SERPINE3_uc010tgp.2_Silent_p.R88R	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	88					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CAGACAAAAGGGTGAAAGATT	0.493000														10			16		0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104782675	104782675	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:104782675G>A	uc003vct.3	-	9	1477	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	SRPK2_uc003vcu.3_Silent_p.S430S|SRPK2_uc003vcv.3_Silent_p.S441S|SRPK2_uc003vcw.1_Silent_p.S430S	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	430	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTGTTCATAGGAGCTGCTAT	0.413000														133			55		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216251549	216251550	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:216251549_216251550GG>AA	uc002vfa.3	-	27	4740_4741	c.4474_4475CC>TT	c.(4474-4476)cct>TTt	p.P1492F	FN1_uc002vfc.3_Missense_Mutation_p.P1401F|FN1_uc002vfe.3_Missense_Mutation_p.P1401F|FN1_uc002vff.3_Missense_Mutation_p.P1401F|FN1_uc002vfg.3_Missense_Mutation_p.P1401F|FN1_uc002vfh.3_Missense_Mutation_p.P1401F|FN1_uc002vfi.3_Missense_Mutation_p.P1492F|FN1_uc002vfj.3_Missense_Mutation_p.P1492F|FN1_uc002vfb.3_Missense_Mutation_p.P1401F|FN1_uc002vez.3_5'UTR|FN1_uc010zjp.2_Missense_Mutation_p.P119F	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1491	Cell-attachment.|Fibronectin type-III 10.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCTTCTCGAGGTCTCCCACTG	0.535000														48			27		0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55246770	55246770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:55246770C>T	uc002qgu.1	+	5	1018	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S		NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	334						integral to membrane|plasma membrane	receptor activity	p.P334L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GGTCATCATCCCCTTTGCTAT	0.498000														74			36		0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14208691	14208691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:14208691C>T	uc011ave.2	-	4	703	c.599G>A	c.(598-600)gGg>gAg	p.G200E	XPC_uc011avf.2_Missense_Mutation_p.G7E|XPC_uc011avg.2_Missense_Mutation_p.G163E	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	200					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCATGGACCCCTTTATTGAA	0.458000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					15			4		0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19121890	19121890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:19121890C>T	uc002zou.3	-	9	1287	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	417					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGGTGTGTAGCTGGCCCGCAG	0.687000														89			7		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23174609	23174609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:23174609C>T	uc003xdh.1	-	8	1828	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R	LOXL2_uc010lty.1_Missense_Mutation_p.G36R	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	497	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTGACATCTCCGTGCCAATAC	0.532000														126			65		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76528908	76528908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:76528908G>A	uc002fex.1	+	12	2330	c.2191G>A	c.(2191-2193)Gga>Aga	p.G731R	CNTNAP4_uc002feu.1_Missense_Mutation_p.G727R|CNTNAP4_uc002fev.1_Missense_Mutation_p.G592R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G655R|CNTNAP4_uc002few.2_Missense_Mutation_p.G703R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	728	Fibrinogen C-terminal.				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						TGGATTAGAGGGAAACTGCAT	0.403000														134			67		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66512876	66512876	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:66512876C>T	uc003dmx.3	-	1	290	c.276G>A	c.(274-276)ccG>ccA	p.P92P	LRIG1_uc010hoa.3_Silent_p.P92P	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	92						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CCTGTAGGTTCGGCAAGTCCT	0.478000														21			9		0	0	1	0	0
KRTAP19-6	337973	broad.mit.edu	37	21	31914061	31914061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:31914061C>T	uc002yok.1	-	0	121	c.92G>A	c.(91-93)aGa>aAa	p.R31K		NM_181612	NP_853643	Q3LI70	KR196_HUMAN	Homo sapiens keratin associated protein 19-6 (KRTAP19-6), mRNA.	31						intermediate filament		p.Y30*(1)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						AGAGCCATATCTGTAGCCTCC	0.512000														153			87		0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334753	122334753	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:122334753T>A	uc001lev.1	+	5	908	c.556T>A	c.(556-558)Ttg>Atg	p.L186M	PPAPDC1A_uc010qtd.2_Missense_Mutation_p.L186M|PPAPDC1A_uc009xzl.1_Missense_Mutation_p.L123M|PPAPDC1A_uc001lew.1_Silent_p.P92P|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Missense_Mutation_p.L65M	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	186					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CATCCTGCCCTTGTACTGCGC	0.612000														119			32		0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53571340	53571341	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:53571340_53571341GG>AA	uc010eqk.3	-	6	2862_2863	c.2446_2447CC>TT	c.(2446-2448)cct>TTt	p.P816F	ZNF160_uc002qaq.4_Missense_Mutation_p.P816F|ZNF160_uc002qar.4_Missense_Mutation_p.P816F	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	816					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)		TCATTTGTAAGGTTTCTCTCCG	0.416000														198			42		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141356300	141356300	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:141356300G>T	uc002tvj.1	-	42	8066	c.7094C>A	c.(7093-7095)cCa>cAa	p.P2365Q		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2365					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)		AAGTCCATTTGGAGTGAGTAT	0.423000										TSP Lung(27;0.18)				101			10		7.03913e-09	7.18872e-09	1	1	0
TSKS	60385	broad.mit.edu	37	19	50249809	50249810	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:50249809_50249810CC>TT	uc002ppm.3	-	5	920_921	c.909_910GG>AA	c.(907-912)tgggga>tgAAga	p.303_304WG>*R		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	303							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGCCCCATTCCCCAGCCTGCGG	0.723000														48			27		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541981	70541982	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:70541981_70541982GG>AA	uc001dep.3	+	22	4368	c.4338_splice	c.e22+1	p.Q1446_splice	LRRC7_uc009wbg.3_Splice_Site_p.Q730_splice|LRRC7_uc001deq.3_Splice_Site_p.Q640_splice	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1446	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATCCAGAGCAGGTGAGAAGTGT	0.465000														48			11		0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062392	76062392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:76062392G>A	uc001oxh.1	-	4	1802	c.1802C>T	c.(1801-1803)gCt>gTt	p.A601V	PRKRIR_uc021qnn.1_Missense_Mutation_p.A426V|PRKRIR_uc010rrz.1_Missense_Mutation_p.A426V	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	601					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GCATTTAAGAGCTTTGAGGTG	0.408000														113			51		0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409576	153409576	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:153409576C>T	uc010pdx.2	-	2	375	c.297G>A	c.(295-297)aaG>aaA	p.K99K		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.									p.G99E(1)		NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATGCATTATCTTGTGGTGGT	0.478000														151			44		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201389	140201389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:140201389G>A	uc003lhl.2	+	0	29	c.29G>A	c.(28-30)gGa>gAa	p.G10E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.G10E|PCDHAC2_uc003lhj.1_Missense_Mutation_p.G10E	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGTCTGGGATCCCGGCTC	0.502000														52			31		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53654425	53654425	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:53654425G>A	uc004dsp.3	-	16	1827	c.1425C>T	c.(1423-1425)atC>atT	p.I475I		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	475					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTTTGGCTTGATCACAAACG	0.318000														161			37		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358090	66358090	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:66358090G>A	uc001oiq.4	-	0	2465	c.2397C>T	c.(2395-2397)atC>atT	p.I799I	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	799										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						GCCCCTTGAAGATCACTGGCT	0.542000														244			90		0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77594934	77594934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:77594934C>T	uc001oys.3	-	21	2685	c.2657G>A	c.(2656-2658)gGc>gAc	p.G886D	C11orf67_uc001oyp.3_Intron|C11orf67_uc001oyr.1_Intron|INTS4_uc001oyt.3_Non-coding_Transcript	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	886					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CCGCCCTGGGCCAGGATTCCG	0.547000														32			4		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61510970	61510970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:61510970C>T	uc002ydr.2	-	15	6650	c.6338G>A	c.(6337-6339)aGg>aAg	p.R2113K	DIDO1_uc002yds.2_Missense_Mutation_p.R2113K	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2113	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCTCTCCTCCTGTCCTCGGA	0.697000														101			90		0	0	1	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1139306	1139306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:1139306G>A	uc001add.3	-	3	571	c.433C>T	c.(433-435)Cca>Tca	p.P145S	TNFRSF18_uc001ada.3_Missense_Mutation_p.A143V|TNFRSF18_uc001adb.3_Missense_Mutation_p.A208V|TNFRSF18_uc001adc.3_Missense_Mutation_p.A215V	NM_148901	NP_683699	Q9Y5U5	TNR18_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 18 (TNFRSF18), transcript variant 2, mRNA.	0					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGCTTCTGGCGTCTTCGGT	0.706000														17			17		0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684452	44684452	+	Silent	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:44684452T>C	uc003cnm.3	+	5	2036	c.1830T>C	c.(1828-1830)atT>atC	p.I610I	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	610					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CAAACTTCATTGACCATAAGA	0.413000														43			19		0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:66729162C>T	uc010bhq.3	+	2	845	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	MAP2K1_uc010ujp.2_Missense_Mutation_p.P102S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	124	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(12)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000														52			31		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169279309	169279309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:169279309G>A	uc021xuh.1	-	36	5220	c.5110C>T	c.(5110-5112)Cat>Tat	p.H1704Y	DDX60L_uc003irq.4_Missense_Mutation_p.H1704Y	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1704							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TATTCTAAATGATTTTGACTC	0.308000														47			15		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60757799	60757799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:60757799G>A	uc002jad.3	+	15	2860	c.2458G>A	c.(2458-2460)Gac>Aac	p.D820N	MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	820					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCGGGAGCCCGACGACAGCCC	0.627000														119			31		0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169985727	169985727	+	Silent	SNP	T	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:169985727T>G	uc001ggv.3	-	9	1330	c.1059A>C	c.(1057-1059)atA>atC	p.I353I	KIFAP3_uc021pep.1_Silent_p.I313I|KIFAP3_uc010ply.2_Silent_p.I275I|KIFAP3_uc001ggw.2_Silent_p.I309I|KIFAP3_uc010plx.2_Silent_p.I55I	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	353					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTCACAAGGTATCATTTTCA	0.358000														107			20		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777588	237777588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:237777588G>A	uc001hyl.1	+	36	5280	c.5160G>A	c.(5158-5160)atG>atA	p.M1720I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1720	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAGGCTCATGATGAACAACG	0.522000														23			13		0	0	1	0	0
CLNS1A	1207	broad.mit.edu	37	11	77333673	77333673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:77333673C>T	uc001oyk.3	-	4	610	c.518G>A	c.(517-519)gGa>gAa	p.G173E		NM_001293	NP_001284	P54105	ICLN_HUMAN	Homo sapiens chloride channel, nucleotide-sensitive, 1A (CLNS1A), mRNA.	173					blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			ATGGGATAATCCTTCTTCATA	0.398000														69			41		0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2074697	2074697	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:2074697G>A	uc003ger.2	-	22	2527	c.2515C>T	c.(2515-2517)Cag>Tag	p.Q839*	POLN_uc010icg.1_Intron	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	839					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCCCTCACCTGAAGCTGCAGC	0.637000								DNA polymerases (catalytic subunits)						69			79		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70281853	70281853	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:70281853G>A	uc001vip.3	-	9	2885	c.2091C>T	c.(2089-2091)ctC>ctT	p.L697L	KLHL1_uc010thm.2_Silent_p.L636L	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	697					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTCACCAAGGAGACAGACCC	0.433000														47			39		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496209	41496209	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:41496209G>A	uc002yyq.1	-	19	4061	c.3609C>T	c.(3607-3609)tcC>tcT	p.S1203S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1203	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAAAGACCATGGAGGCTGAGG	0.572000														78			54		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632552	32632552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:32632552C>T	uc003zrg.1	-	0	3116	c.3026G>A	c.(3025-3027)gGa>gAa	p.G1009E	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1009					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGCATCTGTTCCTGTCACTGT	0.458000														103			101		0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12543219	12543219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:12543219G>A	uc002mtu.3	-	2	361	c.163C>T	c.(163-165)Caa>Taa	p.Q55*		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	55	KRAB.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TATCTATATTGATCTTCAATG	0.294000														52			27		0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159468	18159468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:18159468C>T	uc021qek.1	+	0	719	c.719C>T	c.(718-720)tCc>tTc	p.S240F	MRGPRX3_uc001mnu.3_Missense_Mutation_p.S240F	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	240						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCCCTGTTTTCCAGGATCCAC	0.517000														46			21		0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64940037	64940037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:64940037G>A	uc010rnz.2	+	4	477	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	159	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GGGCACGGATGGGTTTCCGGG	0.577000														55			26		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41572389	41572389	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:41572389G>T	uc003azl.4	+	29	5313	c.4918G>T	c.(4918-4920)Gag>Tag	p.E1640*		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1640	Binding region for E1A adenovirus.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding	p.L1639P(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAGCACCTGGAGTTCTCTTC	0.567000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					105			18		8.04996e-18	8.26004e-18	1	1	0
ADARB2	105	broad.mit.edu	37	10	1405832	1405832	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:1405832G>A	uc009xhq.3	-	2	794	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	156	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCGCTACCGCGAAGACCGGGG	0.692000														27			9		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701930	179701930	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:179701930T>G	uc002une.2	-	22	4134	c.4016A>C	c.(4015-4017)cAg>cCg	p.Q1339P	CCDC141_uc002unf.1_Missense_Mutation_p.Q818P	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	764							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)			CAAACCACCCTGAGCCTGAGG	0.478000														47			23		0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141243088	141243088	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:141243088G>A	uc003llp.3	-	2	2925	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S	PCDH1_uc011dbf.2_Silent_p.S914S|PCDH1_uc003llq.3_Silent_p.S936S	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	936					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGAACTTGAGGGACTTCTGCA	0.612000														13			5		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4512034	4512034	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:4512034C>T	uc002mar.1	-	2	1896	c.1896G>A	c.(1894-1896)aaG>aaA	p.K632K	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	632	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.S632T(1)|p.S632S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCACAGCCCCCTTGGCCACGT	0.552000														115			53		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47852815	47852815	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:47852815G>C	uc003tny.2	-	48	7284	c.7250C>G	c.(7249-7251)cCc>cGc	p.P2417R	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.P144R	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2417					cell-cell adhesion	integral to membrane			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						TATCAGGTAGGGGTTCTCAGG	0.547000														109			53		0	0	1	0	0
STARD3NL	83930	broad.mit.edu	37	7	38247239	38247239	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:38247239A>C	uc003tfr.3	+	1	407	c.134A>C	c.(133-135)aAg>aCg	p.K45T		NM_032016	NP_114405	O95772	MENTO_HUMAN	Homo sapiens STARD3 N-terminal like (STARD3NL), mRNA.	45						integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						GGAAGGGAAAAGAAAGGCATA	0.448000														163			31		0	0	1	0	0
RAMP2	10266	broad.mit.edu	37	17	40914382	40914382	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:40914382T>A	uc002ibg.3	+	2	241	c.173T>A	c.(172-174)gTg>gAg	p.V58E	LOC100190938_uc002ibe.4_5'Flank|LOC100190938_uc002ibf.4_5'Flank|RAMP2_uc010cyt.3_Missense_Mutation_p.V63E|RAMP2_uc021txv.1_Intron	NM_005854	NP_005845	O60895	RAMP2_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 2 (RAMP2), mRNA.	58					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity	p.T57A(1)		endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	GGGGGGACGGTGAAGAACTAT	0.502000														167			62		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84502638	84502638	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:84502638C>T	uc004eeq.3	+	2	946	c.60C>T	c.(58-60)acC>acT	p.T20T	ZNF711_uc004eep.3_Silent_p.T20T|ZNF711_uc004eeo.3_Silent_p.T20T	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	20					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGGCCCATACCATGATTATGC	0.363000														173			34		0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129200779	129200780	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:129200779_129200780GG>AA	uc004evd.4	-	8	2293_2294	c.1908_1909CC>TT	c.(1906-1911)agcctt>agTTtt	p.L637F	ELF4_uc004eve.4_Missense_Mutation_p.L637F	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	637					NK T cell proliferation|natural killer cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTTGTCAGAAGGCTCCCAGATG	0.584000			T	ERG	AML									223			50		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180609	65180609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr18:65180609G>A	uc002lke.1	-	1	2491	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	DSEL_uc021ulg.1_Missense_Mutation_p.P423S	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	413						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CCCCAGTTAGGGAATGTGTGT	0.488000														60			21		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125109543	125109543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:125109543C>T	uc003yqw.3	+	35	4933	c.4727C>T	c.(4726-4728)cCc>cTc	p.P1576L	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1576						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GACATGTTTCCCAAGGATATG	0.507000														125			17		0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67233250	67233250	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:67233250G>A	uc002esa.3	+	0	223	c.180G>A	c.(178-180)gtG>gtA	p.V60V	ELMO3_uc002esb.3_Silent_p.V60V|ELMO3_uc002esc.3_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	7					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CGCGGAACGTGGTGAAGATTG	0.687000														91			50		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7736084	7736085	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:7736084_7736085CC>TT	uc003gkb.4	+	24	3294_3295	c.3294_3295CC>TT	c.(3292-3297)atcctc>atTTtc	p.L1099F	SORCS2_uc011bwi.2_Missense_Mutation_p.L927F	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	1099						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GAGCCTTCATCCTCTACAAGTT	0.629000														10			11		0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11418822	11418822	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:11418822G>A	uc003wty.3	+	10	1622	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	BLK_uc003wua.3_Silent_p.G183G	NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	347	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TTGCTGAAGGGATGGCATACA	0.597000														26			14		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84108201	84108201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:84108201C>T	uc003pjy.3	-	2	512	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	ME1_uc011dzb.2_Missense_Mutation_p.E8K|ME1_uc011dzc.2_Intron	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	83					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAGAGTTTTTCATTTCTATCT	0.343000														14			12		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179743	124179743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:124179743C>T	uc010sag.2	-	0	920	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	307					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)		GACTCATTTTCCTACTAAGAC	0.368000														56			22		0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112343651	112343651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:112343651G>A	uc003kqh.3	+	8	1183	c.959G>A	c.(958-960)gGa>gAa	p.G320E	DCP2_uc010jcc.3_Intron|DCP2_uc011cwa.2_Missense_Mutation_p.G109E	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	Homo sapiens DCP2 decapping enzyme homolog (S. cerevisiae) (DCP2), transcript variant 1, mRNA.	320					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|nucleus	RNA binding|exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		AGTATGAGGGGAAATGGCAGA	0.328000														30			10		0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50864341	50864341	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:50864341G>A	uc002prx.3	-	4	578	c.525C>T	c.(523-525)agC>agT	p.S175S	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	175					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CGAAGACCAGGCTGGGCTCCC	0.527000														127			28		0	0	1	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20305231	20305231	+	Silent	SNP	G	A	A	rs148271639		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:20305231G>A	uc001bcu.3	-	1	254	c.36C>T	c.(34-36)atC>atT	p.I12I	PLA2G2A_uc001bcv.3_Silent_p.I12I|PLA2G2A_uc010oda.2_Silent_p.I12I|PLA2G2A_uc010odb.2_Silent_p.I12I	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN	Homo sapiens phospholipase A2, group IIA (platelets, synovial fluid) (PLA2G2A), transcript variant 4, mRNA.	12				I -> Y (in Ref. 4; AAT73043).	defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	p.I12F(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTACCAAAGATCATGATCA	0.527000														45			28		0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1487371	1487371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:1487371G>A	uc003skj.4	-	3	512	c.365C>T	c.(364-366)tCg>tTg	p.S122L		NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	122						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGAGTCCTCCGAGGCCCTCTT	0.662000														10			7		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802413	233802413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:233802413C>T	uc010pxo.1	+	1	596	c.428C>T	c.(427-429)cCc>cTc	p.P143L		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	143						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	ATTGGCATTCCCTTCACCCTC	0.592000														64			16		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193081163	193081163	+	Silent	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:193081163A>G	uc011bsq.2	-	2	246	c.246T>C	c.(244-246)ttT>ttC	p.F82F		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	82					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TATATCTTTGAAATTCGTCCT	0.413000														53			16		0	0	1	0	0
CBX7	23492	broad.mit.edu	37	22	39530047	39530047	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:39530047G>T	uc003axb.3	-	5	694	c.605C>A	c.(604-606)gCc>gAc	p.A202D	CBX7_uc003axc.3_Missense_Mutation_p.A109D	NM_175709	NP_783640	O95931	CBX7_HUMAN	Homo sapiens chromobox homolog 7 (CBX7), mRNA.	202					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					GGCCAGGTCGGCATCTGCTGC	0.647000														169			19		3.83957e-06	3.89358e-06	1	1	0
NPR2	4882	broad.mit.edu	37	9	35792626	35792626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:35792626C>T	uc003zyd.3	+	0	221	c.221C>T	c.(220-222)gCc>gTc	p.A74V	NPR2_uc010mlb.3_Missense_Mutation_p.A74V	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	74					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGGAAGGCGCCTGCTCTGAG	0.662000														71			27		0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103363602	103363602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:103363602C>T	uc001ymc.2	+	9	1177	c.824C>T	c.(823-825)tCc>tTc	p.S275F	TRAF3_uc001ymd.2_Missense_Mutation_p.S275F|TRAF3_uc001yme.2_Missense_Mutation_p.S250F|TRAF3_uc010txy.2_Missense_Mutation_p.S192F	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA.	275					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TTTTAGGTTTCCTTGTTGCAG	0.274000														4			5		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73614901	73614901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:73614901G>A	uc002avp.3	-	7	4527	c.3533C>T	c.(3532-3534)cCc>cTc	p.P1178L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1178					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)		AGTCAGAGGGGGCCCCCCAGA	0.622000														11			5		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641025	57641025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:57641025C>T	uc002qny.3	+	3	1338	c.982C>T	c.(982-984)Ctt>Ttt	p.L328F	USP29_uc021vci.1_Missense_Mutation_p.L328F	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	328					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTGAGGCTCTTATTATGAC	0.373000														97			20		0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14665692	14665692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:14665692C>T	uc001mln.3	+	0	424	c.71C>T	c.(70-72)cCc>cTc	p.P24L	PDE3B_uc001mlm.2_Missense_Mutation_p.P24L|PDE3B_uc010rcr.2_Missense_Mutation_p.P24L|PSMA1_uc001mll.3_5'Flank	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	24					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTCGCCCCCCGAGAGTCTG	0.697000														13			6		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104984679	104984679	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:104984679A>G	uc004elz.1	+	7	1799	c.1043A>G	c.(1042-1044)aAa>aGa	p.K348R		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	348					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.R347C(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGCTGCGTAAAAAGGGTATT	0.368000														57			5		0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395072	49395072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:49395072C>T	uc021wxw.1	-	1	441	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	GPX1_uc021wxx.1_3'UTR	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	121					UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion	cytosol|mitochondrion	SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	GGGTGCGCCCCCGCACCGTTC	0.622000														45			11		0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1477776	1477776	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:1477776G>A	uc003skj.4	-	11	2415	c.2268C>T	c.(2266-2268)ctC>ctT	p.L756L	MICALL2_uc003ski.4_Silent_p.L243L	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	756						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCACGCCGCGGAGCTCCAGGG	0.711000														2			2		0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135574324	135574324	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:135574324C>T	uc004ezv.1	+	2	1139	c.990C>T	c.(988-990)ctC>ctT	p.L330L		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	330					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGCTCTCTACTGGCTGA	0.478000														208			35		0	0	1	0	0
DSN1	79980	broad.mit.edu	37	20	35399430	35399430	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:35399430G>A	uc010gfr.3	-	2	574	c.201C>T	c.(199-201)ctC>ctT	p.L67L	DSN1_uc002xfz.3_Silent_p.L67L|DSN1_uc002xfy.4_Intron|DSN1_uc010zvs.2_Intron|DSN1_uc002xga.3_Silent_p.L67L|DSN1_uc002xgc.3_Silent_p.L51L|DSN1_uc002xgb.3_Silent_p.L51L	NM_001145316	NP_001138790	Q9H410	DSN1_HUMAN	Homo sapiens DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) (DSN1), transcript variant 1, mRNA.	67					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				CCTGGTGGCTGAGATCACAAT	0.473000														101			36		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141445244	141445244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:141445244G>A	uc003yvh.2	-	3	1135	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F	TRAPPC9_uc003yvj.2_Missense_Mutation_p.L276F|TRAPPC9_uc003yvi.1_Missense_Mutation_p.L276F	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	276					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCAGCAGGAAGGGTGCTGCCC	0.532000														61			15		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111297894	111297894	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:111297894A>C	uc003dxw.3	+	4	782	c.612A>C	c.(610-612)gaA>gaC	p.E204D	CD96_uc003dxv.3_Missense_Mutation_p.E188D|CD96_uc003dxx.3_Missense_Mutation_p.E188D|CD96_uc010hpy.1_Missense_Mutation_p.E188D	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	204	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAACTCAGGAAACACTTATCT	0.428000									Opitz Trigonocephaly syndrome					75			29		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7636159	7636159	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:7636159C>T	uc001qsz.3	-	11	3020	c.2892G>A	c.(2890-2892)caG>caA	p.Q964Q	CD163_uc001qta.3_Silent_p.Q964Q|CD163_uc009zfw.2_Silent_p.Q997Q	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	964	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.A963S(1)		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						GACACACCACCTGAGCATCGT	0.517000														73			36		0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52720618	52720618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:52720618G>A	uc002aby.2	-	2	531	c.287C>T	c.(286-288)tCc>tTc	p.S96F	MYO5A_uc002abx.3_Missense_Mutation_p.S96F|MYO5A_uc010uge.1_Intron	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	96	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AATAAGTTTGGAATCAATAAA	0.408000														103			20		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105732781	105732781	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:105732781A>C	uc001pix.2	+	4	965	c.519A>C	c.(517-519)aaA>aaC	p.K173N	GRIA4_uc001piu.1_Missense_Mutation_p.K173N|GRIA4_uc001piw.2_Missense_Mutation_p.K173N|GRIA4_uc001piv.3_Missense_Mutation_p.K173N|GRIA4_uc009yxk.1_Missense_Mutation_p.K173N	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	173					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TTATGGAAAAAGCAGGACAAA	0.368000														99			21		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393918	154393918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:154393918C>T	uc010jih.1	+	0	659	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	167	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACGGGAGGATCCTAAGGAAGG	0.398000														118			39		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121342188	121342188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:121342188G>A	uc003eeg.2	+	2	2122	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	638					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGTCCACAGAGAGGTAAGTAA	0.408000														30			5		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064197	70064197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:70064197C>T	uc010kak.3	+	25	3808	c.3532C>T	c.(3532-3534)Cct>Tct	p.P1178S	BAI3_uc003pev.4_Missense_Mutation_p.P1178S|BAI3_uc011dxx.2_Missense_Mutation_p.P384S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1178					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)				GAGTTCGTTTCCTAATGGGCA	0.383000														65			67		0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44635090	44635090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:44635090C>T	uc002oyj.1	+	4	566	c.323C>T	c.(322-324)tCa>tTa	p.S108L	ZNF225_uc010ejf.1_Missense_Mutation_p.S108L	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GAACAAATTTCAAGTGACTTA	0.413000														92			67		0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117228674	117228674	+	Splice_Site	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:117228674T>A	uc004biy.4	-	3	329	c.-311_splice	c.e3-1		DFNB31_uc004biz.4_Splice_Site_p.V280_splice|DFNB31_uc004bja.4_Splice_Site_p.V280_splice	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.						inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGTTCACCTGTCAGAGGGA	0.612000														71			69		0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72739288	72739288	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:72739288G>A	uc010wrc.2	+	3	472	c.282G>A	c.(280-282)caG>caA	p.Q94Q	RAB37_uc002jlc.2_Silent_p.Q82Q|RAB37_uc002jld.2_Silent_p.Q82Q|RAB37_uc010dfu.3_Silent_p.Q82Q|RAB37_uc010wrb.2_Silent_p.Q57Q|RAB37_uc002jlk.3_Silent_p.Q89Q|RAB37_uc010wre.2_Silent_p.Q52Q	NM_001163989	NP_001157461	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA.	89					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CCGCTGGGCAGGAACGGTTCC	0.592000														119			29		0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50434213	50434213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:50434213C>T	uc010enq.2	+	2	688	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	IL4I1_uc021uxy.1_5'Flank|IL4I1_uc002pqu.2_5'Flank|IL4I1_uc010eno.2_5'Flank|IL4I1_uc002pqv.2_5'Flank|NUP62_uc002prb.3_5'Flank|NUP62_uc002pqx.3_5'Flank|NUP62_uc002pqy.3_5'Flank|NUP62_uc002pra.3_5'Flank|NUP62_uc002pqz.3_5'Flank|NUP62_uc002prc.3_5'Flank|ATF5_uc002prd.3_Missense_Mutation_p.P36S|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	36					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GGCCCCTGCCCCCCTGGCTCC	0.697000														11			10		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144874735	144874735	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:144874735G>A	uc003yzp.1	-	30	4255	c.4248C>T	c.(4246-4248)ctC>ctT	p.L1416L	SCRIB_uc003yzn.1_Silent_p.L149L|SCRIB_uc003yzo.1_Silent_p.L1416L	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1416					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGTCCAGGGCGAGCCTCGCTT	0.692000														6			5		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112785951	112785952	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:112785951_112785952GG>CA	uc002thk.1	+	18	2632_2633	c.2510_2511GG>CA	c.(2509-2511)tgg>tCA	p.W837S	MERTK_uc002thl.1_Missense_Mutation_p.W661S	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	837	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						TACTCTTGCTGGAGAACCGATC	0.441000														43			27		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336899	115336899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:115336899C>T	uc011lwx.1	+	1	714	c.539C>T	c.(538-540)tCt>tTt	p.S180F	KIAA1958_uc004bgf.1_Missense_Mutation_p.S180F	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	180										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTAGTCCCATCTTCCCTCCAT	0.443000														55			12		0	0	1	0	0
EPHX3	79852	broad.mit.edu	37	19	15338473	15338473	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:15338473C>T	uc002nap.3	-	7	1067	c.858_splice	c.e7-1	p.R286_splice	EPHX3_uc002naq.3_Splice_Site_p.R286_splice	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	Homo sapiens epoxide hydrolase 3 (EPHX3), transcript variant 1, mRNA.	286						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGGGGAAGTTCCTGTGGCcag	0.602000														36			17		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940619	113940620	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:113940619_113940620CC>TT	uc002tjc.3	+	1	769_770	c.586_587CC>TT	c.(586-588)ccc>TTc	p.P196F	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.P195F|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	196					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTGGACCTCCCCGGGGACACG	0.639000														42			24		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43738697	43738698	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:43738697_43738698TC>GT	uc001zrs.3	-	13	3060_3061	c.2912_2913GA>AC	c.(2911-2913)gga>gAC	p.G971D	TP53BP1_uc010udp.2_Missense_Mutation_p.G971D|TP53BP1_uc001zrq.4_Missense_Mutation_p.G976D|TP53BP1_uc001zrr.4_Missense_Mutation_p.G976D|TP53BP1_uc010udq.1_Missense_Mutation_p.G976D	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	971					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			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)		AATCCCCTTTTCCACTCCCAAG	0.465000								Other conserved DNA damage response genes						119			25		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144780309	144780309	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:144780309G>A	uc003qkt.3	+	20	2619	c.2527_splice	c.e20-1	p.R843_splice	UTRN_uc010khq.1_Splice_Site_p.R843_splice	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	843	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTCTTCCTTAGCGGGAATTGA	0.463000														18			12		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468982	56468982	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:56468982G>A	uc021wzo.1	-	0	194	c.54C>T	c.(52-54)tcC>tcT	p.S18S	ERC2_uc003dhr.1_Silent_p.S18S	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	18						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCAAACGAGGGGATCTGGAAG	0.463000														26			14		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416592	145416592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:145416592G>A	uc001eni.2	+	3	1262	c.937G>A	c.(937-939)Gac>Aac	p.D313N	HFE2_uc001enk.2_Missense_Mutation_p.D200N|HFE2_uc001enj.2_Missense_Mutation_p.D87N|HFE2_uc001enl.2_Missense_Mutation_p.D87N|HFE2_uc021oux.1_Missense_Mutation_p.D87N	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	313					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCTGAACAGGACCTGCAGCT	0.552000														124			30		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24524988	24524988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:24524988G>A	uc001wlj.2	+	9	917	c.760G>A	c.(760-762)Ggg>Agg	p.G254R		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	254								p.A253A(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGACAACGCCGGGCTTAAGAC	0.572000														26			24		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22248959	22248959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:22248959C>T	uc001mqi.2	+	6	792	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	ANO5_uc001mqj.2_Missense_Mutation_p.P158S	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	159						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTGATATTCCCCGCCCTAA	0.433000														110			45		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798196	148798196	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:148798196C>T	uc004fdq.3	+	4	1205	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	MAGEA11_uc004fdr.3_Silent_p.F321F	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	350	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGGAGCACTTCCTCTTTGGGG	0.537000														270			41		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160093081	160093081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:160093081G>A	uc001fvc.3	+	3	388	c.256G>A	c.(256-258)Gag>Aag	p.E86K	ATP1A2_uc001fvb.2_Missense_Mutation_p.E86K|ATP1A2_uc010piz.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	86					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CACAACCCCTGAGTGGGTCAA	0.627000														199			144		0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94320221	94320221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:94320221C>T	uc001pfa.3	+	6	933	c.722C>T	c.(721-723)tCc>tTc	p.S241F	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	241					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAAAGATTATCCCTTTGGCCT	0.353000														91			38		0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37565202	37565202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:37565202G>A	uc002hrv.4	-	16	3484	c.3272C>T	c.(3271-3273)tCc>tTc	p.S1091F	MED1_uc010wee.2_Missense_Mutation_p.S919F|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	1091	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCTGCCTGAGGAAGACACAGA	0.478000										HNSCC(31;0.082)				85			27		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67911493	67911493	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:67911493C>T	uc002eur.3	+	5	962	c.723C>T	c.(721-723)atC>atT	p.I241I	EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_Silent_p.I173I|EDC4_uc002eus.3_5'UTR	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	241					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCCCCTTCATCCCTGAGGAGA	0.597000														135			23		0	0	1	0	0
EMP2	2013	broad.mit.edu	37	16	10641415	10641415	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:10641415G>A	uc002czx.3	-	1	254	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_001424	NP_001415	P54851	EMP2_HUMAN	Homo sapiens epithelial membrane protein 2 (EMP2), mRNA.	20				F -> L (in Ref. 3; CAA64393).	cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CGGTGGCAATGAACAGCAAGG	0.517000														64			15		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38507810	38507810	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:38507810T>A	uc002yvz.3	+	17	1679	c.1574T>A	c.(1573-1575)aTa>aAa	p.I525K	TTC3_uc011aee.1_Missense_Mutation_p.I215K|TTC3_uc002ywa.3_Missense_Mutation_p.I525K|TTC3_uc002ywb.3_Missense_Mutation_p.I525K|TTC3_uc010gnf.3_Missense_Mutation_p.I290K|TTC3_uc002ywc.3_Missense_Mutation_p.I215K|TTC3_uc011aed.1_Missense_Mutation_p.I215K|TTC3_uc010gne.1_Missense_Mutation_p.I525K	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	525					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCTCAAAAAATAAAGGTAAAT	0.413000														25			4		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312947	48312947	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:48312947C>T	uc003toq.2	+	16	3708	c.3684C>T	c.(3682-3684)ttC>ttT	p.F1228F	ABCA13_uc010kyr.2_Silent_p.F731F|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1228					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						GGGAGGACTTCCTGGATCTCA	0.383000														31			12		0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14862007	14862007	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:14862007G>A	uc004cwg.1	-	9	2530	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F	FANCB_uc004cwh.1_Silent_p.F754F	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	754					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TATCAATTAGGAAATTCTCAC	0.348000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					43			21		0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87460461	87460461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:87460461G>A	uc003ydt.3	+	18	2363	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	WWP1_uc010mai.3_Missense_Mutation_p.D471N	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	695	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TACTATTAAGGATTTGGAATC	0.294000														18			7		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28137058	28137059	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:28137058_28137059CC>TT	uc002dpa.1	-	12	2218_2219	c.1717_1718GG>AA	c.(1717-1719)ggg>AAg	p.G573K	XPO6_uc002dpb.1_Missense_Mutation_p.G559K|XPO6_uc010vcp.1_Missense_Mutation_p.G573K	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	573					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAACACATCCCCGATAAAGTAC	0.574000														119			62		0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887960	47887960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:47887960G>A	uc002xui.3	-	2	636	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	130							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTCTGGTGGGGAGTCCGCCA	0.527000														240			90		0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	171965445	171965445	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:171965445C>T	uc003fhy.3	+	4	559	c.387C>T	c.(385-387)caC>caT	p.H129H	FNDC3B_uc003fhz.4_Silent_p.H129H|FNDC3B_uc003fia.3_Silent_p.H60H	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	129						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)		ATCTGACTCACCATCCACATT	0.542000														272			55		0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88892890	88892890	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:88892890T>A	uc001xwq.3	+	5	1108	c.687T>A	c.(685-687)caT>caA	p.H229Q	SPATA7_uc001xwr.3_Missense_Mutation_p.H197Q|SPATA7_uc001xws.3_Missense_Mutation_p.H165Q|SPATA7_uc001xwt.3_Missense_Mutation_p.H123Q|SPATA7_uc001xwu.3_5'Flank	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	229					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TGGATAAACATTCTGAACTCT	0.433000														50			46		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77918628	77918628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:77918628G>A	uc002ffg.1	+	6	1103	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	336							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GGGAGTGGTGGAAAAACTCAT	0.502000														13			6		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097730	167097730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:167097730G>A	uc001geb.1	+	4	3378	c.3362G>A	c.(3361-3363)cGg>cAg	p.R1121Q		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1121					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCCAGTATCGGAGAAGCACT	0.512000														35			10		0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207263705	207263705	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:207263705G>T	uc009xcd.3	+	1	401	c.81G>T	c.(79-81)aaG>aaT	p.K27N	C4BPB_uc001hfi.3_Missense_Mutation_p.K36N|C4BPB_uc001hfj.3_Missense_Mutation_p.K37N|C4BPB_uc001hfl.3_Missense_Mutation_p.K37N|C4BPB_uc001hfk.3_Missense_Mutation_p.K36N|C4BPB_uc001hfm.3_Missense_Mutation_p.K37N|C4BPB_uc010pse.1_Missense_Mutation_p.K27N	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	37	Sushi 1.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TTGTCGCAAAGGAGGTGGAAG	0.458000														55			16		6.31663e-08	6.43567e-08	1	1	0
NOL6	65083	broad.mit.edu	37	9	33463111	33463111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:33463111G>A	uc003zsz.3	-	24	3312	c.3211C>T	c.(3211-3213)Ctt>Ttt	p.L1071F	NOL6_uc003zsy.3_Missense_Mutation_p.L125F|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.L1068F|NOL6_uc011lob.2_Missense_Mutation_p.L1019F|NOL6_uc003ztb.1_Intron	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	1071					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TAGAAGAAAAGGGCCAGATCC	0.552000														8			5		0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117526915	117526915	+	Silent	SNP	T	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:117526915T>G	uc004eqn.3	+	3	938	c.507T>G	c.(505-507)ctT>ctG	p.L169L	WDR44_uc004eqo.3_Silent_p.L169L|WDR44_uc011mtr.2_Silent_p.L144L|WDR44_uc010nqi.3_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	169	Binding activity.					Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TTAATGTGCTTGAAACTGAAA	0.383000														124			26		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28903799	28903799	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:28903799T>A	uc001usb.3	-	18	2945	c.2660A>T	c.(2659-2661)cAc>cTc	p.H887L	FLT1_uc010aaq.2_Missense_Mutation_p.H12L|FLT1_uc001usa.3_Missense_Mutation_p.H105L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	887	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTTCAGATGGTGGCCAATGTG	0.582000														29			17		0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47456639	47456639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:47456639C>T	uc003crh.1	-	18	3343	c.3088G>A	c.(3088-3090)Gat>Aat	p.D1030N	SCAP_uc011baz.1_Missense_Mutation_p.D774N|SCAP_uc003crg.2_Missense_Mutation_p.D637N|BC067356_uc003cri.3_Non-coding_Transcript	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	1030	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding	p.D1030H(2)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAGAAGAAATCAAGGGAACCG	0.622000														30			17		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7503289	7503289	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:7503289G>A	uc003bqm.2	+	6	1669	c.1395G>A	c.(1393-1395)gtG>gtA	p.V465V	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.V465V|GRM7_uc003bql.2_Silent_p.V465V|GRM7_uc003bqn.1_Silent_p.V48V|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	465					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCACTCCAGTGATGTTTAACA	0.453000														103			31		0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147088235	147088235	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:147088235G>A	uc004fcm.3	+	2	485	c.411G>A	c.(409-411)agG>agA	p.R137R		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	137	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCAATCTGAGGGAAAATCAGG	0.378000														109			23		0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44594524	44594524	+	Silent	SNP	C	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:44594524C>A	uc011aqe.2	+	11	1159	c.735C>A	c.(733-735)ctC>ctA	p.L245L	PARVG_uc003bep.3_Silent_p.L245L|PARVG_uc011aqf.2_Silent_p.L245L|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	245	CH 2.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCATCTTACTCTTGCTGATTG	0.458000														220			35		5.2432e-18	5.38643e-18	1	1	0
ATP13A5	344905	broad.mit.edu	37	3	193007754	193007754	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:193007754G>A	uc011bsq.2	-	25	2943	c.2943C>T	c.(2941-2943)tcC>tcT	p.S981S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	981					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGGAGAAACAGGAATTCAAAA	0.433000														62			14		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115079318	115079318	+	RNA	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:115079318G>A	uc001eez.3	-	28		c.4325C>T				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTCGAGCAGGATGTCGATAT	0.532000														82			21		0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42854184	42854184	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:42854184C>T	uc010skv.2	-	7	2210	c.1923G>A	c.(1921-1923)ggG>ggA	p.G641G	PRICKLE1_uc001rnl.3_Silent_p.G641G|PRICKLE1_uc010skw.2_Silent_p.G641G|PRICKLE1_uc001rnm.3_Silent_p.G641G|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	641					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TGTCATAGTTCCCATTGTCAA	0.507000														38			11		0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153649075	153649075	+	Splice_Site	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:153649075G>T	uc010nuy.3	+	9	789	c.789_splice	c.e9+1	p.A263_splice	TAZ_uc004fkx.3_Splice_Site_p.A259_splice|TAZ_uc004fky.3_Splice_Site_p.A245_splice|TAZ_uc004fkz.3_Splice_Site|TAZ_uc004fla.3_Splice_Site_p.A229_splice|TAZ_uc004flb.3_Splice_Site_p.A215_splice|TAZ_uc004flc.4_Splice_Site_p.A229_splice	NM_181312	NP_851829	Q16635	TAZ_HUMAN	Homo sapiens tafazzin (TAZ), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	259					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGTCGGCTGTGAGTTTCCT	0.657000														56			46		4.63999e-43	4.80094e-43	1	1	0
AMIGO2	347902	broad.mit.edu	37	12	47472445	47472445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:47472445G>A	uc001rpm.3	-	2	996	c.341C>T	c.(340-342)tCc>tTc	p.S114F	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.S114F|AMIGO2_uc001rpl.3_Missense_Mutation_p.S114F|AMIGO2_uc021qxg.1_Missense_Mutation_p.S114F	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	114					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGGAGTTGTGGAAAAACTGCC	0.433000														110			22		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433558	69433558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:69433558C>T	uc021xov.1	-	0	688	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	215					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GCATATATATCATATTTTTTA	0.353000														72			65		0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58000787	58000787	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:58000787C>T	uc001sow.1	+	4	478	c.141C>T	c.(139-141)tcC>tcT	p.S47S	DTX3_uc001sov.1_Silent_p.S40S|DTX3_uc001sox.1_Silent_p.S40S|DTX3_uc001soy.1_Silent_p.S40S	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA.	47					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ACCGTGTGTCCATCCTCATAG	0.607000														183			124		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797421	127797421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:127797421C>T	uc003qbd.3	-	5	2615	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	584						integral to membrane											AGCTCGGCCTCCCTAGTGCTG	0.562000														52			18		0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97918597	97918597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:97918597C>T	uc001klp.3	+	5	3375	c.2518C>T	c.(2518-2520)Cca>Tca	p.P840S	ZNF518A_uc001klo.1_Missense_Mutation_p.P310S|ZNF518A_uc001klq.3_Missense_Mutation_p.P840S|ZNF518A_uc001klr.3_Missense_Mutation_p.P840S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	840					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGGCATCTTCCCAGTTCCACC	0.383000														46			22		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159353	154159353	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:154159353C>T	uc004fmt.3	-	13	2883	c.2712G>A	c.(2710-2712)ctG>ctA	p.L904L		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	904	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGTTGAAATCAGATTATTTG	0.368000														70			12		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348074	180348074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:180348074G>A	uc002unn.4	-	5	1199	c.595C>T	c.(595-597)Cct>Tct	p.P199S	ZNF385B_uc002unj.3_Missense_Mutation_p.P97S|ZNF385B_uc002unl.3_Missense_Mutation_p.P96S|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.P123S	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	199						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCCTTGGAAGGAACCATTTTG	0.458000														78			11		0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120003510	120003510	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:120003510C>T	uc002tlp.3	+	2	595	c.438C>T	c.(436-438)ttC>ttT	p.F146F	STEAP3_uc002tlq.3_Silent_p.F156F|STEAP3_uc002tlr.3_Silent_p.F146F|STEAP3_uc010fle.3_Silent_p.F146F	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	146					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TCAAGGCCTTCAATGTCATCT	0.517000														163			19		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616394	248616394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:248616394C>T	uc001iek.1	+	0	296	c.296C>T	c.(295-297)gCa>gTa	p.A99V		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	99					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)			CTGGGCTGTGCAGTTCAGATC	0.532000														293			74		0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201438229	201438229	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:201438229A>G	uc002uvw.2	+	6	3273	c.3160A>G	c.(3160-3162)Aaa>Gaa	p.K1054E	SGOL2_uc010zhd.1_Missense_Mutation_p.K1054E|SGOL2_uc010zhe.1_Missense_Mutation_p.K1054E	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	1054					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTTGAATAAAAAAGATCTCCC	0.343000														74			20		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532707	92532707	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:92532707C>T	uc001pdj.4	+	8	6545	c.6528C>T	c.(6526-6528)atC>atT	p.I2176I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2176	Cadherin 19.				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)				AGCTTCCCATCACTATTGTCA	0.428000										TCGA Ovarian(4;0.039)				20			17		0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475274	17475274	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:17475274G>A	uc002wpo.3	-	7	1482	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	BFSP1_uc002wpp.3_Silent_p.D356D|BFSP1_uc010zrn.2_Silent_p.D342D|BFSP1_uc010zro.2_Silent_p.D342D	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	481	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AGAATCTAGGGTCCACGTAAT	0.552000														45			20		0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84356080	84356080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:84356080G>A	uc001djc.3	-	18	2689	c.2293C>T	c.(2293-2295)Cgg>Tgg	p.R765W	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	765					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTGAAAATCCGATATAAATTT	0.408000														38			26		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003955	122003955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:122003955C>T	uc003eew.4	+	6	3622	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	CASR_uc003eev.4_Missense_Mutation_p.P1052S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	1052					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.S1061N(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGAGTTGTCCCCAGCACTTGT	0.522000														118			22		0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76672231	76672231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:76672231G>A	uc021ueg.1	-	12	1210	c.1139C>T	c.(1138-1140)cCt>cTt	p.P380L	CYTH1_uc010wtv.2_Non-coding_Transcript|CYTH1_uc002jvw.3_Missense_Mutation_p.P379L	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	380					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TTCGTAGAAAGGGTCCCTGCT	0.572000														16			5		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71801457	71801457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:71801457G>A	uc010fen.3	+	29	3499	c.3358G>A	c.(3358-3360)Gag>Aag	p.E1120K	DYSF_uc010fei.3_Missense_Mutation_p.E1119K|DYSF_uc010feh.3_Missense_Mutation_p.E1088K|DYSF_uc002sig.4_Missense_Mutation_p.E1088K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.E1133K|DYSF_uc010fee.3_Missense_Mutation_p.E1102K|DYSF_uc010fef.3_Missense_Mutation_p.E1119K|DYSF_uc002sie.3_Missense_Mutation_p.E1102K|DYSF_uc010feo.3_Missense_Mutation_p.E1134K|DYSF_uc010fej.3_Missense_Mutation_p.E1089K|DYSF_uc010fel.3_Missense_Mutation_p.E1089K|DYSF_uc010fem.3_Missense_Mutation_p.E1103K|DYSF_uc002sif.3_Missense_Mutation_p.E1103K|DYSF_uc010fek.3_Missense_Mutation_p.E1120K|DYSF_uc010yqy.2_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1102						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						GGAGCCACTGGAGAAGACGGG	0.622000														79			45		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120383201	120383201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:120383201C>T	uc002tmb.3	+	15	1707	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	PCDP1_uc010yyq.2_Missense_Mutation_p.R329C	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	485						cilium	calmodulin binding					Colorectal(110;0.196)					GAGTGCTGTTCGTGAAATGGA	0.403000														81			32		0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3131141	3131141	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:3131141C>T	uc010sej.2	+	9	1147	c.855C>T	c.(853-855)ttC>ttT	p.F285F	TEAD4_uc010sek.2_Silent_p.F242F|TEAD4_uc001qln.3_Silent_p.F156F	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	285					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			AGGATCTCTTCGAACGGGGAC	0.532000														148			33		0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40639346	40639346	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:40639346C>T	uc002hzs.3	+	9	1172	c.1005C>T	c.(1003-1005)acC>acT	p.T335T	ATP6V0A1_uc002hzr.3_Silent_p.T328T|ATP6V0A1_uc002hzq.3_Silent_p.T328T|ATP6V0A1_uc010wgj.2_Silent_p.T285T|ATP6V0A1_uc010wgk.2_Silent_p.T285T|ATP6V0A1_uc010cyg.3_Intron|ATP6V0A1_uc010wgl.2_Silent_p.T187T	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	328					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GCCCTGTCACCGACCTTGACT	0.517000														111			29		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368697	22368697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:22368697G>A	uc010tzu.2	+	0	220	c.122G>A	c.(121-123)gGa>gAa	p.G41E	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTACCAGGAAATATCCTT	0.413000														637			105		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63046000	63046000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:63046000C>T	uc002alb.4	+	32	4361	c.4361C>T	c.(4360-4362)cCa>cTa	p.P1454L	TLN2_uc002alc.4_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1454					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATCTCTGATCCAAACAGCCAG	0.592000														64			19		0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800093	74800093	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:74800093G>A	uc010rro.2	-	0	666	c.666C>T	c.(664-666)tcC>tcT	p.S222S		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGTGGACATAGGAGAGAAGCA	0.607000														25			13		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62758426	62758426	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:62758426C>T	uc010ihh.3	+	6	1502	c.1329C>T	c.(1327-1329)acC>acT	p.T443T	LPHN3_uc003hcq.4_Silent_p.T443T|LPHN3_uc003hcs.1_Silent_p.T272T	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	443					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.T442N(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGTACCACCCTTCGGACCA	0.493000														258			17		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868507	150868507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:150868507G>A	uc022cgt.1	+	2	96	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	PRRG3_uc004few.2_Missense_Mutation_p.R16Q	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	16						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTGAAACGATTCCCTCGT	0.587000														72			6		0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100489541	100489541	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:100489541G>A	uc001tgq.3	-	6	973	c.744C>T	c.(742-744)tcC>tcT	p.S248S	UHRF1BP1L_uc001tgr.3_Silent_p.S248S|UHRF1BP1L_uc001tgp.3_5'Flank	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	248										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTTCAACTGGGAATCAGTCA	0.338000														23			12		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450026	105450026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:105450026G>A	uc022cca.1	+	0	601	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	MUM1L1_uc004emg.2_Missense_Mutation_p.E201K|MUM1L1_uc004emf.2_Missense_Mutation_p.E201K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	201								p.S200L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCACTTTCGGAAGATAATGA	0.383000														23			6		0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279119	51279119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:51279119C>T	uc001rwx.4	+	3	790	c.743C>T	c.(742-744)cCt>cTt	p.P248L	TMPRSS12_uc001rwy.3_Missense_Mutation_p.P248L	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	Homo sapiens transmembrane (C-terminal) protease, serine 12 (TMPRSS12), mRNA.	248	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GGAATAATTCCTAACACTTCA	0.363000														172			35		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623280	100623280	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:100623280C>T	uc002taf.3	-	5	906	c.762G>A	c.(760-762)caG>caA	p.Q254Q	AFF3_uc002tag.3_Silent_p.Q229Q|AFF3_uc010fiq.1_Silent_p.Q229Q|AFF3_uc010yvr.1_Silent_p.Q383Q|AFF3_uc002tah.1_Silent_p.Q254Q|AFF3_uc010fir.1_Silent_p.Q306Q	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	229					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGTCGGTTTCTGCTGGACCA	0.577000														65			35		0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41142863	41142863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:41142863C>T	uc002yyo.3	+	3	542	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	147	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GCTGTTCATTCCCAGTGTTAA	0.423000														40			15		0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25770316	25770316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:25770316C>T	uc003nfe.3	+	3	438	c.319C>T	c.(319-321)Cct>Tct	p.P107S	SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.3_Missense_Mutation_p.P44S	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	107					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGACTGGAGTCCTGAAATCCA	0.453000														93			250		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692808	49692808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:49692808C>T	uc003cxe.4	+	4	5933	c.5819C>T	c.(5818-5820)cCc>cTc	p.P1940L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1940					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCAGCAGCCCCTTCTATGGT	0.682000														39			9		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41386931	41386931	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:41386931T>A	uc001rmm.1	+	16	2086	c.1973T>A	c.(1972-1974)aTt>aAt	p.I658N	CNTN1_uc001rmn.1_Missense_Mutation_p.I647N	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	658	Fibronectin type-III 1.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GATCCCCCAATTATTGAAGGA	0.368000														110			72		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190891	49190891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:49190891C>T	uc002rww.3	-	9	1179	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	FSHR_uc010fbn.3_Missense_Mutation_p.E331K|FSHR_uc002rwx.3_Missense_Mutation_p.E295K	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	357					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ATGATATCTTCACATGGGTTG	0.458000									Gonadal Dysgenesis, 46 XX					81			45		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108719488	108719488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:108719488C>T	uc003dxl.3	-	20	2190	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	MORC1_uc011bhn.2_Missense_Mutation_p.M680I	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	701					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GCTTCCTTTTCATTTCCCAAG	0.363000														59			18		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160753437	160753437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:160753437C>T	uc003lys.1	-	9	1347	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	377					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ccagtagggtcccacaaggat	0.363000														38			40		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958804	121958804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:121958804C>T	uc003idq.1	-	3	849	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	108										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCAAGAGGTTCCAGATCACCT	0.413000														36			10		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974972	20974972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:20974972G>A	uc010vbe.2	-	52	10234	c.10234C>T	c.(10234-10236)Ccc>Tcc	p.P3412S	DNAH3_uc010vbd.2_Missense_Mutation_p.P847S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3412					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A3411D(1)		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)		AGCCATTGGGGAGCTGGATTG	0.527000														66			11		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31680452	31680452	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:31680452C>T	uc010zue.2	+	8	1347	c.1332C>T	c.(1330-1332)atC>atT	p.I444I		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	444						cytoplasm|extracellular region	lipid binding										ACCTGGATATCACCAATGGCA	0.577000														104			55		0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14891774	14891774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:14891774C>T	uc001inf.3	+	5	572	c.431C>T	c.(430-432)cCg>cTg	p.P144L	HSPA14_uc010qbw.2_Missense_Mutation_p.P144L	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA.	144					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	p.P144Q(2)		breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						ATTACTGTCCCGTTTGATTTT	0.323000														33			31		0	0	1	0	0
DDIT4L	115265	broad.mit.edu	37	4	101108909	101108909	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:101108909G>A	uc003hvq.3	-	2	752	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	Homo sapiens DNA-damage-inducible transcript 4-like (DDIT4L), mRNA.	169					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		CTGAGCTGAGGATCAGAGTTC	0.388000														33			13		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254660	51254660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:51254660C>T	uc021vhh.1	-	0	1673	c.752G>A	c.(751-753)cGc>cAc	p.R251H	NRXN1_uc021vhg.1_Missense_Mutation_p.R251H|NRXN1_uc021vhi.1_Missense_Mutation_p.R251H|NRXN1_uc021vhj.1_Missense_Mutation_p.R251H|NRXN1_uc021vhk.1_Missense_Mutation_p.R251H	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	251	EGF-like 1.				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	p.A251T(1)		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)			GTCCTTGCCGCGGAAGCCGGT	0.746000														61			21		0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79699004	79699004	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:79699004C>T	uc022bzm.1	+	0	966	c.966C>T	c.(964-966)ctC>ctT	p.L322L	FAM46D_uc004edl.1_Silent_p.L322L|FAM46D_uc004edm.2_Silent_p.L322L	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	322										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GACAGATTCTCCACCTGATCA	0.403000														48			39		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112584	18112584	+	Silent	SNP	C	T	T	rs141345709	byFrequency	TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:18112584C>T	uc021veh.1	+	0	309	c.309C>T	c.(307-309)atC>atT	p.I103I	KCNS3_uc002rcv.3_Silent_p.I103I|KCNS3_uc002rcw.3_Silent_p.I103I	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	103					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)					GCCAGGAGATCGAGTACTGGG	0.478000														110			65		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25459648	25459649	+	Missense_Mutation	DNP	GG	AA	AA	rs146085894		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:25459648_25459649GG>AA	uc002wux.1	-	15	2185_2186	c.2111_2112CC>TT	c.(2110-2112)ccc>cTT	p.P704L	NINL_uc010gdn.1_Missense_Mutation_p.P704L|NINL_uc010gdo.1_Missense_Mutation_p.P487L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	704					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTCAGGCTCGGGGCCGCGGGC	0.678000														55			24		0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558519	11558519	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:11558519G>A	uc010xlz.2	+	11	1377	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	PRKCSH_uc002mrt.3_Silent_p.P340P|PRKCSH_uc002mru.3_Intron|PRKCSH_uc010dyb.3_Intron	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	340					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						AGGCCCCACCGCCACTGTCAC	0.677000														14			6		0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832611	72832611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:72832611G>A	uc002jls.4	+	9	1438	c.1276G>A	c.(1276-1278)Ggg>Agg	p.G426R	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Missense_Mutation_p.G426R	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	426						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGGCATCACAGGGGCCTACGC	0.667000														33			14		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45725795	45725795	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:45725795C>T	uc002xsm.3	+	8	1250	c.876C>T	c.(874-876)tcC>tcT	p.S292S	EYA2_uc010ghp.3_Silent_p.S292S|EYA2_uc002xsq.3_Silent_p.S292S	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	292					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CATTTGCATCCAGATACGGGA	0.423000														215			99		0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004728	41004728	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:41004728G>A	uc002ibv.3	+	0	1528	c.1368G>A	c.(1366-1368)gcG>gcA	p.A456A		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	456					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGGGTCTTGCGGAAACGGTGC	0.522000														70			27		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113518937	113518937	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:113518937G>A	uc003ynu.3	-	28	5037	c.4878C>T	c.(4876-4878)atC>atT	p.I1626I	CSMD3_uc003yns.3_Silent_p.I898I|CSMD3_uc003ynt.3_Silent_p.I1586I|CSMD3_uc011lhx.2_Silent_p.I1522I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1626	CUB 9.					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						ACGCCAAGGAGATAACATAGT	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				110			25		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61851400	61851400	+	Silent	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:61851400G>T	uc002eog.2	-	6	2215	c.1260C>A	c.(1258-1260)atC>atA	p.I420I	CDH8_uc002eoh.3_Silent_p.I189I	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	420	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GACTGGAAGTGATATCAGGGT	0.428000														51			12		0.000566183	0.000570138	1	1	0
ZNF211	10520	broad.mit.edu	37	19	58152747	58152747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:58152747C>T	uc002qpr.2	+	5	1388	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	ZNF211_uc010yhb.1_Missense_Mutation_p.S302F|ZNF211_uc002qpp.2_Missense_Mutation_p.S311F|ZNF211_uc002qpq.2_Missense_Mutation_p.S298F|ZNF211_uc002qpt.2_Missense_Mutation_p.S310F|ZNF211_uc010yhc.1_Missense_Mutation_p.S310F|ZNF211_uc010yhe.1_Missense_Mutation_p.S289F|ZNF211_uc010yhd.1_Missense_Mutation_p.S237F	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	298						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)		ACCTACTACTCCAGTTTCATT	0.418000														72			17		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96762413	96762413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:96762413C>T	uc003htr.4	+	0	1175	c.1112C>T	c.(1111-1113)tCa>tTa	p.S371L		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	371					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AGCAGTGATTCATCTTTTGAA	0.433000														82			22		0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45997582	45997582	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:45997582G>A	uc002pcb.3	-	3	886	c.656C>T	c.(655-657)cCg>cTg	p.P219L	RTN2_uc002pcc.3_Missense_Mutation_p.P219L|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	219						integral to endoplasmic reticulum membrane	signal transducer activity	p.P219L(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGATGGGGACGGAGTACCGGC	0.622000														50			26		0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760957	6760957	+	Silent	SNP	A	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:6760957A>C	uc002mft.3	-	2	305	c.111T>G	c.(109-111)gtT>gtG	p.V37V	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	37	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CAGAGGCGCGAACCAGGAAGT	0.612000														29			9		0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159174647	159174647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:159174647G>A	uc003ipx.3	+	12	1526	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	336						integral to membrane		p.G336G(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CATCTTGACTGGAGCCTTATG	0.383000														60			18		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177056375	177056375	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:177056375G>A	uc003iuj.3	+	8	1590	c.1287G>A	c.(1285-1287)gtG>gtA	p.V429V	WDR17_uc003ium.4_Silent_p.V405V|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	429										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TAACAGCAGTGTACACATCCC	0.358000														88			26		0	0	1	0	0
TCF7L1	83439	broad.mit.edu	37	2	85531453	85531453	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:85531453G>A	uc002soy.3	+	6	1062	c.837G>A	c.(835-837)tcG>tcA	p.S279S		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	279	Pro-rich.				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TGAACGCCTCGATGTCCAGGT	0.592000														106			51		0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427357	71427357	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:71427357C>T	uc004eaq.1	-	1	1357	c.1260G>A	c.(1258-1260)cgG>cgA	p.R420R	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Silent_p.R297R	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	420					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)					AACAACAAGCCCGTGCAGACA	0.463000														122			21		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38603976	38603976	+	Missense_Mutation	SNP	G	T	T	rs28937319		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:38603976G>T	uc021wvo.1	-	20	3945	c.3893C>A	c.(3892-3894)cCc>cAc	p.P1298H	SCN5A_uc021wvk.1_Missense_Mutation_p.P1297H|SCN5A_uc021wvl.1_Missense_Mutation_p.P1244H|SCN5A_uc021wvm.1_Missense_Mutation_p.P1298H|SCN5A_uc021wvn.1_Missense_Mutation_p.P1297H|SCN5A_uc021wvp.1_Missense_Mutation_p.P1298H|SCN5A_uc021wvq.1_Missense_Mutation_p.P1297H|SCN5A_uc021wvr.1_Missense_Mutation_p.P1298H|SCN5A_uc021wvs.1_Missense_Mutation_p.P1298H|SCN5A_uc021wvt.1_Missense_Mutation_p.P1297H|SCN5A_uc021wvu.1_Missense_Mutation_p.P1244H|SCN5A_uc021wvv.1_Missense_Mutation_p.P1298H|SCN5A_uc021wvj.1_Missense_Mutation_p.P1110H|SCN5A_uc021wvi.1_Missense_Mutation_p.P1164H|SCN5A_uc021wvw.1_Missense_Mutation_p.P908H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1298			P -> L (in SSS1; dbSNP:rs28937319).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.G1297V(1)|p.G1297G(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGACTTGATGGGGCCCATCTC	0.612000														15			5		3.59834e-05	3.64042e-05	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21031159	21031159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:21031159C>T	uc010vbe.2	-	40	5809	c.5809G>A	c.(5809-5811)Gaa>Aaa	p.E1937K		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1937					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)		TCACCTAATTCCATTTCCTCC	0.483000														72			18		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38229491	38229491	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:38229491C>A	uc002ohe.3	-	4	1969	c.1900G>T	c.(1900-1902)Ggt>Tgt	p.G634C	ZNF573_uc010efs.2_Missense_Mutation_p.G547C|ZNF573_uc002ohd.3_Missense_Mutation_p.G632C|ZNF573_uc002ohf.3_Missense_Mutation_p.G576C|ZNF573_uc002ohg.3_Missense_Mutation_p.G546C|ZNF573_uc021utv.1_Missense_Mutation_p.G546C	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GGTTTCTCACCAGTATGAATT	0.403000														87			23		1.66031e-10	1.69759e-10	1	1	0
KCNB1	3745	broad.mit.edu	37	20	48098963	48098963	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:48098963C>G	uc002xur.1	-	0	221	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	KCNB1_uc002xus.1_Missense_Mutation_p.E19Q	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	19					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)			TCCATGGGCTCGGGCGGCAGC	0.741000														7			4		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184765094	184765094	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:184765094A>C	uc001gra.3	-	13	1998	c.1804T>G	c.(1804-1806)Tct>Gct	p.S602A	FAM129A_uc001grb.1_Missense_Mutation_p.S365A	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	602					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGAATGGCAGAAGCTCTCCTG	0.537000														82			42		0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108709293	108709293	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:108709293G>A	uc001pkm.3	+	14	2150	c.2085_splice	c.e14+1	p.E695_splice	DDX10_uc001pkl.1_Splice_Site_p.E695_splice	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	695							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGAAGGGGAGGTAAGATTCTA	0.328000			T	NUP98	AML*									209			31		0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21990978	21990978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:21990978G>A	uc002nqj.3	-	3	1991	c.1861C>T	c.(1861-1863)Ccc>Tcc	p.P621S	ZNF43_uc002nql.3_Missense_Mutation_p.P615S|ZNF43_uc002nqm.3_Missense_Mutation_p.P615S|ZNF43_uc010ecv.3_Missense_Mutation_p.P615S|ZNF43_uc002nqk.3_Missense_Mutation_p.P551S	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K620N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CATTTGTAGGGTTTTCCTCCA	0.348000														46			8		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94031972	94031972	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:94031972A>T	uc011cdt.2	+	3	861	c.603A>T	c.(601-603)gaA>gaT	p.E201D	GRID2_uc010ikx.3_Missense_Mutation_p.E201D|GRID2_uc011cdu.2_Missense_Mutation_p.E106D|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	201					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGAAGGTAGAAAACAACATCA	0.408000														89			25		0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113820095	113820095	+	Silent	SNP	G	A	A	rs149664037		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:113820095G>A	uc002tis.3	+	4	442	c.309G>A	c.(307-309)cgG>cgA	p.R103R	IL36RN_uc002tit.3_Silent_p.R103R	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	103						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.R102R(1)		large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCTACCGGCGGGACATGGGGC	0.617000														78			23		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83333150	83333150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:83333150C>T	uc010uoi.2	-	18	2407	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	AP3B2_uc010uoh.2_Missense_Mutation_p.E725K|AP3B2_uc010uoj.2_Missense_Mutation_p.E693K|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Missense_Mutation_p.E361K|DQ601936_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	725	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCCTCATCCTCATCCTGGTCT	0.567000														74			31		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256881	32256881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:32256881G>A	uc001bts.1	-	15	3032	c.2974C>T	c.(2974-2976)Ctt>Ttt	p.L992F	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btu.3_Intron|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	992					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GAGACAGGAAGAGCCCAAAGG	0.582000														26			13		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517311	140517311	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:140517311C>T	uc003liq.3	+	0	2512	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	765					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCAAGTTCCTGAAGCCGA	0.542000														98			95		0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195794484	195794484	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:195794484G>A	uc003fvz.4	-	8	1228	c.945C>T	c.(943-945)tcC>tcT	p.S315S	TFRC_uc003fwa.4_Silent_p.S315S|TFRC_uc010hzy.3_Silent_p.S234S|TFRC_uc011btr.2_Silent_p.S33S	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	315					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TGTGATTGAAGGAAGGGAATC	0.463000			T	BCL6	NHL									64			32		0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95761117	95761117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:95761117G>A	uc003uog.4	-	14	1723	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	SLC25A13_uc003uof.4_Missense_Mutation_p.S510F|SLC25A13_uc011kik.2_Missense_Mutation_p.S402F	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	510					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATTTGCAAAGGAAGCCTTCAC	0.512000														35			21		0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1517897	1517897	+	Missense_Mutation	SNP	G	C	C	rs151165529		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:1517897G>C	uc002wfi.3	-	2	525	c.481C>G	c.(481-483)Cat>Gat	p.H161D		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	161						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGGGCATCATGGTGGGCCCTG	0.557000														161			32		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488226	24488226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:24488226C>T	uc003jgr.2	-	11	2419	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	638					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R638L(2)|p.R638Q(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTTTTTTTCGCTGTCTTTT	0.398000										HNSCC(23;0.051)				14			11		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875199	247875200	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:247875199_247875200GG>AA	uc001idj.1	-	0	858_859	c.858_859CC>TT	c.(856-861)aacccc>aaTTcc	p.P287S		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TAGATGAAGGGGTTTAAAACTG	0.441000														100			54		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105897176	105897176	+	Missense_Mutation	SNP	C	T	T	rs56016004	by1000genomes	TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:105897176C>T	uc002tcq.3	-	5	1210	c.1126G>A	c.(1126-1128)Ggc>Agc	p.G376S	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.G146S|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.G376S	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	376					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	p.S375S(1)		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						TCAAGCTGGCCGCTTCTGCAA	0.542000														23			6		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807893	8807893	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:8807893G>A	uc002mkl.2	-	0	1280	c.1159C>T	c.(1159-1161)Ctg>Ttg	p.L387L		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	387						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGGAGGCCAGGATGGAGCCC	0.647000														28			26		0	0	1	0	0
NAT1	9	broad.mit.edu	37	8	18080296	18080296	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:18080296A>G	uc010ltd.3	+	4	1107	c.740A>G	c.(739-741)aAg>aGg	p.K247R	NAT1_uc003wyt.3_Missense_Mutation_p.K309R|NAT1_uc003wyu.3_Missense_Mutation_p.K247R|NAT1_uc003wyv.3_Missense_Mutation_p.K247R|NAT1_uc010ltc.3_Missense_Mutation_p.K247R|NAT1_uc003wys.3_Missense_Mutation_p.K309R|NAT1_uc003wyr.3_Missense_Mutation_p.K247R|NAT1_uc003wyq.3_Missense_Mutation_p.K247R|NAT1_uc011kyl.2_Missense_Mutation_p.K247R	NM_001160179	NP_001153651	P18440	ARY1_HUMAN	Homo sapiens N-acetyltransferase 1 (arylamine N-acetyltransferase) (NAT1), transcript variant 9, mRNA.	247					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TTCAATTATAAGGACAATACA	0.378000														25			10		0	0	1	0	0
METRNL	284207	broad.mit.edu	37	17	81050936	81050936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:81050936C>T	uc002kgh.3	+	2	706	c.581C>T	c.(580-582)aCc>aTc	p.T194I	METRNL_uc002kgi.3_Missense_Mutation_p.T112I	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	194						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TGCAGTGACACCGAGGTGCTC	0.627000														34			6		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177247747	177247747	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:177247747A>G	uc001glf.3	+	6	1373	c.1061A>G	c.(1060-1062)aAc>aGc	p.N354S	FAM5B_uc010pna.1_Missense_Mutation_p.N104S|FAM5B_uc001glg.3_Missense_Mutation_p.N249S	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	354						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CGGTTCCTGAACTCCACAGCT	0.557000														340			61		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77455013	77455013	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:77455013C>T	uc004ajl.1	-	4	709	c.471G>A	c.(469-471)gaG>gaA	p.E157E	TRPM6_uc004ajk.1_Silent_p.E152E|TRPM6_uc022bib.1_Silent_p.E152E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.E157E|TRPM6_uc010mpd.1_Silent_p.E157E|TRPM6_uc010mpe.1_Silent_p.E157E|TRPM6_uc004ajn.1_Silent_p.E157E	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	157					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGCTGAAAATCTCTTTAAATT	0.433000														63			41		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188067	152188067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:152188067G>A	uc001ezt.1	-	2	6114	c.6038C>T	c.(6037-6039)tCc>tTc	p.S2013F		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2013					keratinization		calcium ion binding|protein binding			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)			ATGGGTAGAGGAATGACCTGA	0.557000														534			22		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9172244	9172245	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:9172244_9172245GG>AA	uc001mhl.3	-	13	2845_2846	c.2588_2589CC>TT	c.(2587-2589)tcc>tTT	p.S863F	DENND5A_uc001mhk.3_Missense_Mutation_p.S206F|DENND5A_uc010rbw.2_Missense_Mutation_p.S863F|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	863	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTGAATCAGGGAGATCCTCAG	0.431000														121			29		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225639827	225639827	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:225639827G>A	uc010fwz.1	-	51	6047	c.5808C>T	c.(5806-5808)aaC>aaT	p.N1936N	DOCK10_uc002vob.2_Silent_p.N1930N|DOCK10_uc002voa.2_Silent_p.N592N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1936	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AATCCTTGGGGTTTACCTGTG	0.507000														30			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061310	9061310	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:9061310C>T	uc002mkp.3	-	2	26340	c.26136G>A	c.(26134-26136)gaG>gaA	p.E8712E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8714	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						AGGTACTGATCTCCCTTAATC	0.498000														47			9		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197404363	197404363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:197404363C>T	uc003fyc.2	-	16	2663	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	KIAA0226_uc003fyd.3_Missense_Mutation_p.R782Q|KIAA0226_uc021xjw.1_5'Flank|KIAA0226_uc003fye.1_Missense_Mutation_p.R559Q	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	827					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTTGGCCAGTCGGCAAGTCTT	0.547000														75			21		0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001145	142001145	+	Silent	SNP	A	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:142001145A>T	uc011kro.1	+	1	282	c.237A>T	c.(235-237)atA>atT	p.I79I	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGTCTGAAATATTCGATGATC	0.398000														10			8		0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86017686	86017686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:86017686G>A	uc001kdd.1	+	5	718	c.680G>A	c.(679-681)gGc>gAc	p.G227D	RGR_uc001kdc.1_Missense_Mutation_p.G223D|RGR_uc001kde.1_Intron	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	223					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	p.L226L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGCTGCTCGGCTGGGGCCCC	0.547000														36			33		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294548	29294548	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:29294548C>T	uc002rmt.2	-	0	2580	c.2580G>A	c.(2578-2580)aaG>aaA	p.K860K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	860					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCTGGGTTTCCTTGGGGGAGT	0.607000														82			39		0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65829377	65829377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:65829377C>T	uc001ogy.1	+	15	1925	c.1885C>T	c.(1885-1887)Cct>Tct	p.P629S		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	629					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCACAAGGTCCCTCCCCCATG	0.562000														54			18		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185229459	185229459	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:185229459T>G	uc003fpm.3	-	8	1231	c.1121A>C	c.(1120-1122)cAc>cCc	p.H374P	LIPH_uc010hyh.3_Missense_Mutation_p.H340P	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	374					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACTCACTTGGTGATATTTCTG	0.388000														85			23		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762050	130762050	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:130762050G>A	uc003qcb.3	+	1	2861	c.483G>A	c.(481-483)agG>agA	p.R161R	TMEM200A_uc003qca.3_Silent_p.R161R|TMEM200A_uc010kfh.3_Silent_p.R161R|TMEM200A_uc010kfi.3_Silent_p.R161R|TMEM200A_uc021zfg.1_Silent_p.R161R	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	161						integral to membrane		p.R161S(3)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TACACATGAGGGATATCTATT	0.408000														44			25		0	0	1	0	0
OR7E5P	219445	broad.mit.edu	37	11	55747418	55747418	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:55747418G>A	uc010riu.1	-	3	594	c.39C>T	c.(37-39)atC>atT	p.I13I						Homo sapiens olfactory receptor, family 7, subfamily E, member 5 pseudogene (OR7E5P), non-coding RNA.											breast(1)|kidney(1)|lung(5)	7						CGATGGCCAGGATAATGAGCA	0.597000														81			37		0	0	1	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016474	22016474	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:22016474C>T	uc010tzk.1	-	0	405	c.243G>A	c.(241-243)acG>acA	p.T81T						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		GCTGAAAATTCGTTACATTTA	0.388000														33			7		0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72613536	72613536	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:72613536G>A	uc002jlb.2	-	1	246	c.109C>T	c.(109-111)Cag>Tag	p.Q37*		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	37	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCTCATACTGACACCACACT	0.542000														38			11		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118373240	118373240	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:118373240G>A	uc001pta.3	+	26	6647	c.6624G>A	c.(6622-6624)cgG>cgA	p.R2208R	MLL_uc001ptb.3_Silent_p.R2211R	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2208					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CCAAACTCCGGATAATGTCTC	0.488000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									48			20		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985474	140985474	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:140985474C>T	uc011mwp.2	+	7	1788	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	MAGEC3_uc004fbs.3_Missense_Mutation_p.P346S|MAGEC3_uc010nsj.3_Missense_Mutation_p.P346S|MAGEC3_uc022cfh.1_Missense_Mutation_p.P346S	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	596	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTATCATCCCTAGTGCCT	0.473000														122			25		0	0	1	0	0
NEDD8-MDP1	100528064	broad.mit.edu	37	14	24701578	24701578	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:24701578C>T	uc021rrm.1	-	1	1	c.-102_splice	c.e1-1		NEDD8-MDP1_uc001wno.2_Splice_Site|NEDD8-MDP1_uc001wnn.2_Splice_Site|NEDD8-MDP1_uc001wnp.2_Splice_Site|GMPR2_uc001wnq.1_5'Flank|GMPR2_uc001wnu.2_5'Flank|GMPR2_uc001wnr.3_5'Flank|GMPR2_uc001wns.3_5'Flank|GMPR2_uc001wnv.3_5'Flank|GMPR2_uc010alk.1_5'Flank|GMPR2_uc001wnw.3_5'Flank|GMPR2_uc001wnx.3_5'Flank|GMPR2_uc010all.3_5'Flank|GMPR2_uc010toe.1_5'Flank	NM_001199823	NP_001186752			Homo sapiens NEDD8-MDP1 readthrough (NEDD8-MDP1), mRNA.																		ACTTCTACTTCCGGGTCACTG	0.627000														5			3		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80329207	80329207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:80329207C>T	uc003hlu.3	-	0	166	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	50					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACCCATCCTTCTTTTGGGAAC	0.418000														85			18		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23233420	23233420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:23233420G>A	uc009vqj.1	+	10	2251	c.2106G>A	c.(2104-2106)atG>atA	p.M702I	EPHB2_uc001bge.3_Missense_Mutation_p.M703I|EPHB2_uc001bgf.3_Missense_Mutation_p.M702I|EPHB2_uc010odu.2_Missense_Mutation_p.M644I	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	702	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCGAGTTCATGGAGAATGGCT	0.567000														43			5		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246531	164246531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:164246531G>A	uc003iqm.2	-	2	1544	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.S117F	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	360					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGAAGTTTTGGAAACATCTGT	0.388000														99			40		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149518985	149518985	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:149518985C>T	uc010lpk.3	+	89	12780	c.12780C>T	c.(12778-12780)tcC>tcT	p.S4260S	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Non-coding_Transcript|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4263	TSP type-1 20.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTCCTGGTCCGACTGCCCTG	0.677000														14			3		0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197687095	197687095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:197687095G>A	uc010iar.3	+	0	25	c.3G>A	c.(1-3)atG>atA	p.M1I	IQCG_uc003fyp.3_5'Flank|LMLN_uc003fyt.3_5'UTR|LMLN_uc011buo.2_Missense_Mutation_p.M1I|LMLN_uc010ias.3_5'UTR|LMLN_uc003fyu.3_5'UTR	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	1					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CGCACTCCATGGTAACGACGC	0.736000														29			6		0	0	1	0	0
RPS7	6201	broad.mit.edu	37	2	3624207	3624207	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:3624207T>C	uc002qxw.3	+	3	384	c.278T>C	c.(277-279)gTc>gCc	p.V93A	RPS7_uc002qxx.3_Missense_Mutation_p.V93A|RPS7_uc002qxy.3_5'Flank	NM_001011	NP_001002	P62081	RS7_HUMAN	Homo sapiens ribosomal protein S7 (RPS7), mRNA.	93					endocrine pancreas development|rRNA processing|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	RNA binding|protein binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		AAGCATGTCGTCTTTATCGCT	0.403000														388			38		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855630	2855630	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:2855630C>T	uc022aqr.1	-	53	8670	c.8280G>A	c.(8278-8280)gtG>gtA	p.V2760V	CSMD1_uc011kwj.2_Silent_p.V2090V|CSMD1_uc010lrg.3_Silent_p.V771V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2761	Sushi 19.					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)		AGGTGAAATTCACGACATCAT	0.557000														100			55		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406708	75406708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:75406708G>A	uc001jut.4	-	3	2854	c.2702C>T	c.(2701-2703)cCc>cTc	p.P901L	SYNPO2L_uc001jus.4_Missense_Mutation_p.P677L	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	901	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGGAGCCAGGGGTTCTGCAGT	0.652000														32			24		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021825	132021825	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:132021825A>T	uc002tsn.2	+	14	2849	c.2797A>T	c.(2797-2799)Agc>Tgc	p.S933C	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.S533C|POTEE_uc002tsl.2_Missense_Mutation_p.S515C|POTEE_uc010fmy.1_Missense_Mutation_p.S397C	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	933	Actin-like.						ATP binding										GGCGGCCTCCAGCTCCTCCCT	0.617000														372			9		0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111089079	111089079	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:111089079C>G	uc001trs.1	-	5	751	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	HVCN1_uc001trq.1_Missense_Mutation_p.E196Q|HVCN1_uc001trt.1_Missense_Mutation_p.E196Q|HVCN1_uc010syd.1_Missense_Mutation_p.E176Q	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	196					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						CCCAGAGCCTCAAACTGGTGC	0.582000														51			9		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50171591	50171591	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:50171591G>A	uc001zxu.3	-	23	2905	c.2763C>T	c.(2761-2763)gcC>gcT	p.A921A	ATP8B4_uc010ber.3_Silent_p.A794A|ATP8B4_uc010ufd.2_Silent_p.A731A|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_5'Flank	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	921					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAATCCCCATGGCTAAAACAG	0.323000														59			9		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34040383	34040383	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:34040383G>A	uc001zhi.3	+	53	8128	c.8058G>A	c.(8056-8058)gtG>gtA	p.V2686V	RYR3_uc010bar.3_Silent_p.V2686V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2686	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)		GCTGGACTGTGGAGAGGACCA	0.527000														76			19		0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176886201	176886201	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:176886201T>C	uc003mgx.2	-	11	1312	c.1030A>G	c.(1030-1032)Agc>Ggc	p.S344G	DBN1_uc011dga.1_Missense_Mutation_p.S74G|DBN1_uc003mgy.2_Missense_Mutation_p.S342G|DBN1_uc010jkn.1_Missense_Mutation_p.S292G|DBN1_uc003mgz.1_Missense_Mutation_p.S325G	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	342					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGCGGTGCTGGAGTCAGAC	0.687000														75			87		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38804994	38804994	+	Splice_Site	SNP	A	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:38804994A>T	uc003ciq.3	-	5	691	c.691_splice	c.e5+1	p.G231_splice		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	231					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATAAATGCTCACCTGGGATCA	0.443000														79			14		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672661	141672661	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:141672661T>A	uc003vwx.1	-	0	913	c.829A>T	c.(829-831)Ata>Tta	p.I277L		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	277					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					ATCACCCCTATTTTGTCGCGC	0.498000														89			40		0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36900403	36900403	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:36900403T>A	uc003apn.4	-	2	899	c.791A>T	c.(790-792)aAt>aTt	p.N264I	FOXRED2_uc003apo.4_Missense_Mutation_p.N264I|FOXRED2_uc003app.4_Missense_Mutation_p.N264I	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	264					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAGCAGGCCATTGTTGATGGC	0.592000														39			28		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479704	4479704	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:4479704C>T	uc001qmq.1	-	2	707	c.561G>A	c.(559-561)cgG>cgA	p.R187R		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	187					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.R187W(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCAGGGGGTCCCGCTCCGAGT	0.682000														49			14		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463358	5463358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:5463358C>T	uc003jdm.4	+	12	4133	c.3911C>T	c.(3910-3912)cCa>cTa	p.P1304L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1304										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGAAAAGTCCATTTCGGGAA	0.438000														11			11		0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800780	21800780	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:21800780C>T	uc002zur.4	+	2	1826	c.1596C>T	c.(1594-1596)ccC>ccT	p.P532P	HIC2_uc002zus.4_Silent_p.P532P	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	532					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGACACGGCCCTTCCCCTGCA	0.637000														134			42		0	0	1	0	0
L32131	0	broad.mit.edu	37	17	58511257	58511257	+	RNA	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:58511257G>A	uc002iyr.1	-	0		c.2101C>T								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		CAAGGTTGACGATCTCATCAA	0.473000														28			11		0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512953	68512953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:68512953C>T	uc021ooq.1	-	0	28	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Missense_Mutation_p.E10K	NM_004675	NP_004666	O95661	DIRA3_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.	10					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGCTTCTGTTCCTTGGAGCCA	0.582000														21			16		0	0	1	0	0
CCK	885	broad.mit.edu	37	3	42299709	42299709	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:42299709T>A	uc021wwk.1	-	2	356	c.229A>T	c.(229-231)Atg>Ttg	p.M77L	CCK_uc003cld.1_Missense_Mutation_p.M77L	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	77					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	p.R76Q(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		ACGATGGACATTCGTCCAGAA	0.512000														52			12		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60701034	60701034	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:60701034C>T	uc001nqi.3	+	7	1573	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A	TMEM132A_uc001nqj.3_Silent_p.A459A|TMEM132A_uc001nqk.3_Silent_p.A472A|TMEM132A_uc001nql.1_3'UTR	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	459						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTGTGATGCCGTGTTCGTGG	0.701000														60			9		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109848541	109848541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:109848541G>A	uc010sxn.1	+	11	1330	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGATTTGGTAGAAGAGAGACA	0.348000														10			7		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26868297	26868297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:26868297G>A	uc001rhg.3	-	7	1207	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	264	MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTCGTACGAAGGAAAATGTGC	0.373000														91			50		0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35448867	35448867	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:35448867A>G	uc002nxh.1	-	3	2279	c.1892T>C	c.(1891-1893)gTt>gCt	p.V631A		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCCTAGGGAACCTCCCCAGG	0.463000														16			13		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802491	185802491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:185802491C>T	uc002uph.3	+	3	2962	c.2368C>T	c.(2368-2370)Cat>Tat	p.H790Y		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	790						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						TCGACAGAATCATTTACCAGA	0.388000														31			26		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84025037	84025037	+	Silent	SNP	A	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:84025037A>T	uc003pjy.3	-	5	961	c.696T>A	c.(694-696)gtT>gtA	p.V232V	ME1_uc011dzb.2_Silent_p.V157V|ME1_uc011dzc.2_Silent_p.V66V	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	232					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ACTTGGAAGAAACTGCCTCCA	0.308000														33			37		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272895	52272895	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:52272895C>T	uc002pxr.3	+	1	1029	c.984C>T	c.(982-984)gaC>gaT	p.D328D	FPR2_uc002pxs.4_Silent_p.D328D|FPR2_uc010epf.3_Silent_p.D328D|FPR2_uc021uyp.1_Silent_p.D328D	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	328					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGTCTGAGGACTCAGCCCCAA	0.547000														79			17		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803116	54803116	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:54803116C>T	uc002qfd.3	-	3	653	c.561G>A	c.(559-561)gtG>gtA	p.V187V	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	186	Ig-like C2-type 2.			T -> N (in Ref. 1; AAB68668, 2; AAB87667 and 3; AAP30716).	cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTTGGGCTCACGGGGCCCA	0.587000														24			59		0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	98865545	98865545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:98865545C>T	uc001vnh.3	+	1	288	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S	FARP1_uc001vni.3_Missense_Mutation_p.P17S|FARP1_uc001vnj.3_Missense_Mutation_p.P17S	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	17					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding	p.A16P(1)|p.A16fs*83(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACTGGGGGCCCCGGAAAATTC	0.522000														56			81		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130494	52130494	+	Silent	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:52130494C>T	uc002pxe.3	-	6	1429	c.1290G>A	c.(1288-1290)tcG>tcA	p.S430S		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	430					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCCCGAGGTTCGATCTCCCTG	0.557000														53			11		0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52303325	52303325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:52303325G>A	uc003pap.4	+	2	724	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	EFHC1_uc011dwv.1_Missense_Mutation_p.R79Q|EFHC1_uc011dww.2_Missense_Mutation_p.R151Q	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	170	DM10 1.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GACCTAAATCGAGGAATAAAC	0.413000														58			80		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701770	103701770	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:103701770C>A	uc001vpy.4	-	4	1385	c.788G>T	c.(787-789)gGg>gTg	p.G263V		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	263					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTTCTGCATCCCCGTTTCAAA	0.423000														30			28		1.99505e-19	2.05443e-19	1	1	0
OR6X1	390260	broad.mit.edu	37	11	123624669	123624669	+	Silent	SNP	G	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:123624669G>A	uc010rzy.2	-	0	558	c.558C>T	c.(556-558)gcC>gcT	p.A186A		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A185A(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGTCTATGCAGGCGGCTTTCA	0.438000														119			16		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142609655	142609655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:142609655C>T	uc003wby.1	-	12	2045	c.1781G>A	c.(1780-1782)aGg>aAg	p.R594K		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	594					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CACCTGGGCCCTCCAGAGCTC	0.498000														92			40		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303356	153303356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:153303356C>T	uc001fbo.3	-	8	1074	c.1009G>A	c.(1009-1011)Ggg>Agg	p.G337R	PGLYRP4_uc001fbp.3_Missense_Mutation_p.G333R	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	337					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCAGGTACCCTTTGACCATG	0.547000														103			22		0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845050	248845050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:248845050C>T	uc001ieu.1	-	0	556	c.556G>A	c.(556-558)Gtt>Att	p.V186I		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TCACAGGAAACCAGGGCCAAC	0.493000														30			21		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171031	207171031	+	Silent	SNP	T	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:207171031T>A	uc002vbp.2	+	4	2029	c.1779T>A	c.(1777-1779)gtT>gtA	p.V593V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	593							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTCAGTAGTTGATCATCCCC	0.408000														41			17		0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110418775	110418775	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:110418775G>T	uc001tps.2	-	6	865	c.700C>A	c.(700-702)Ctc>Atc	p.L234I	GIT2_uc001tpq.2_Missense_Mutation_p.L234I|GIT2_uc001tpv.2_Missense_Mutation_p.L234I|GIT2_uc001tpu.2_Missense_Mutation_p.L234I|GIT2_uc001tpt.2_Missense_Mutation_p.L234I|GIT2_uc010sxu.1_Missense_Mutation_p.L172I|GIT2_uc001tpw.3_Missense_Mutation_p.L234I|GIT2_uc010sxv.1_Missense_Mutation_p.L234I	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	234					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CTGCCACAGAGATAGAAGGCT	0.473000														255			143		8.37379e-70	8.68504e-70	1	1	0
NCOA6	23054	broad.mit.edu	37	20	33324517	33324517	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:33324517A>G	uc002xav.3	-	12	8510	c.5939T>C	c.(5938-5940)cTg>cCg	p.L1980P	NCOA6_uc002xaw.3_Missense_Mutation_p.L1980P|NCOA6_uc021wcd.1_Missense_Mutation_p.L987P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1980	EP300/CRSP3-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|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						AGAGGCCTGCAGTGCTGTGGT	0.433000														47			17		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:74575212_74575213insT	uc001dfy.4	-	4	924_925	c.732_733insA	c.(730-735)aaacagfs	p.K244fs	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	244	IQ.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													---	119	---	---	8	---					
DUSP27	92235	broad.mit.edu	37	1	167095398	167095400	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:167095398_167095400delGAG	uc001geb.1	+	4	1046_1048	c.1030_1032delGAG	c.(1030-1032)gagdel	p.E348del		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	348					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTCATAGACGAGGAGGAGGAGG	0.655													---	8	---	---	4	---					
MARK1	4139	broad.mit.edu	37	1	220792013	220792013	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:220792013delT	uc009xdw.3	+	8	1422	c.825delT	c.(823-825)cgtfs	p.R275fs	MARK1_uc001hmn.4_Frame_Shift_Del_p.R275fs|MARK1_uc010pun.2_Frame_Shift_Del_p.R275fs|MARK1_uc001hmm.4_Frame_Shift_Del_p.R253fs	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	275	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GGAAGTACCGTATTCCCTTCT	0.358													---	76	---	---	48	---					
PUS10	150962	broad.mit.edu	37	2	61169565	61169588	+	Splice_Site	DEL	CAGACTAGAAGGGAGAAAAGAAGT	-	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:61169565_61169588delCAGACTAGAAGGGAGAAAAGAAGT	uc010fci.3	-	18	1612	c.1552_splice	c.e18-1	p.S518_splice	PUS10_uc002sao.3_Splice_Site_p.S518_splice|PUS10_uc010ypk.2_Splice_Site_p.S295_splice	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	518					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TCAACATCTACAGACTAGAAGGGAGAAAAGAAGTCATTAAAACA	0.379													---	169	---	---	15	---					
IFRD1	3475	broad.mit.edu	37	7	112108045	112108046	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:112108045_112108046insA	uc003vgh.3	+	9	1386_1387	c.916_917insA	c.(916-918)tatfs	p.Y306fs	IFRD1_uc011kmn.2_Frame_Shift_Ins_p.Y256fs|IFRD1_uc003vgj.3_Frame_Shift_Ins_p.Y306fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Ins_p.Y256fs|IFRD1_uc003vgk.3_Frame_Shift_Ins_p.Y23fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	306					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GGACTTTTTTTATGAAGACATG	0.391													---	62	---	---	31	---					
CHORDC1	26973	broad.mit.edu	37	11	89956105	89956105	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:89956105delG	uc001pdg.2	-	0	428	c.18delC	c.(16-18)tacfs	p.Y6fs	CHORDC1_uc009yvz.2_Frame_Shift_Del_p.Y6fs	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 (CHORDC1), transcript variant 1, mRNA.	6	CHORD 1.|Interaction with PPP5C (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				AGCCCCGGTTGTAGCACAGCA	0.622													---	80	---	---	18	---					
CEP290	80184	broad.mit.edu	37	12	88512304	88512305	+	Frame_Shift_Ins	INS	-	T	T	rs77980773		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:88512304_88512305insT	uc001tar.3	-	16	2010_2011	c.1666_1667insA	c.(1666-1668)attfs	p.I556fs	CEP290_uc001tat.3_Frame_Shift_Ins_p.I318fs|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	556					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTTGACGAATTTTTTTTTTC	0.312													---	4	---	---	3	---					
NPAS3	64067	broad.mit.edu	37	14	34266732	34266733	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:34266732_34266733insT	uc001wru.3	+	10	1435_1436	c.1371_1372insT	c.(1369-1374)gaatccfs	p.E457fs	NPAS3_uc001wrs.3_Frame_Shift_Ins_p.E444fs|NPAS3_uc001wrv.3_Frame_Shift_Ins_p.E427fs|NPAS3_uc001wrt.3_Frame_Shift_Ins_p.E425fs	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAACTTCCGAATCCTCGGAGAC	0.510													---	186	---	---	39	---					
TGM5	9333	broad.mit.edu	37	15	43525426	43525426	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:43525426delT	uc001zrd.2	-	12	2134	c.2126delA	c.(2125-2127)aagfs	p.K709fs	TGM5_uc001zrc.2_Frame_Shift_Del_p.K366fs|TGM5_uc001zre.2_Frame_Shift_Del_p.K627fs	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	709					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCTGTAACCCTTAATGTCCTT	0.428													---	35	---	---	31	---					
ZNF573	126231	broad.mit.edu	37	19	38229203	38229203	+	Splice_Site	DEL	C	-	-	rs74268405		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:38229203delC	uc002ohe.3	-	5	2257	c.2188_splice	c.e5+1		ZNF573_uc010efs.2_Splice_Site|ZNF573_uc002ohd.3_Splice_Site|ZNF573_uc002ohf.3_Splice_Site|ZNF573_uc002ohg.3_Splice_Site|ZNF573_uc021utv.1_Splice_Site	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTTTTTTTCTTAATTTACC	0.328													---	5	---	---	3	---					
SPINLW1-WFDC6	100526773	broad.mit.edu	37	20	44174297	44174297	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:44174297delT	uc010zxc.2	-	1	273	c.204delA	c.(202-204)aaafs	p.K68fs	SPINLW1-WFDC6_uc002xou.3_Frame_Shift_Del_p.K68fs|SPINLW1-WFDC6_uc002xov.2_Frame_Shift_Del_p.K68fs	NM_001198986	NP_001185915	A6PVD6	A6PVD6_HUMAN	Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA.	68						extracellular region	serine-type endopeptidase inhibitor activity	p.C53fs*28(2)									GATCTAAACATTTTTTTCCGC	0.453													---	525	---	---	7	---					
SGSM1	129049	broad.mit.edu	37	22	25251026	25251026	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:25251026delG	uc003abg.2	+	5	676	c.519delG	c.(517-519)ttgfs	p.L173fs	SGSM1_uc010guu.1_Frame_Shift_Del_p.L173fs|SGSM1_uc003abh.2_Frame_Shift_Del_p.L173fs|SGSM1_uc003abj.2_Frame_Shift_Del_p.L173fs|SGSM1_uc003abi.1_Frame_Shift_Del_p.L148fs|SGSM1_uc003abf.2_Frame_Shift_Del_p.L173fs	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	173	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTGCATCTTTGTTGGGTAAGT	0.527													---	22	---	---	22	---