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
ZNF586	54807	broad.mit.edu	37	19	58287975	58287975	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:58287975A>T	uc002qqd.3	+	1	292	c.101A>T	c.(100-102)gAg>gTg	p.E34V	ZNF587_uc002qqb.2_Intron|ZNF586_uc010euh.3_5'UTR|ZNF586_uc002qqe.3_Intron|ZNF586_uc002qqf.2_Intron	NM_017652	NP_001191743	Q9NXT0	ZN586_HUMAN	Homo sapiens zinc finger protein 586 (ZNF586), transcript variant 1, mRNA.	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		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)		CTTCTTAATGAGGCTCAGAGA	0.468000														137			25		0	0	0.000227799	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988817	154988817	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:154988817G>C	uc001fgj.4	+	5	1663	c.1378G>C	c.(1378-1380)Ggg>Cgg	p.G460R	ZBTB7B_uc009wpa.3_Missense_Mutation_p.G426R|ZBTB7B_uc001fgk.4_Missense_Mutation_p.G426R|ZBTB7B_uc010peq.2_Missense_Mutation_p.G460R|ZBTB7B_uc001fgl.4_Missense_Mutation_p.G426R	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	426					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.T459T(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTGCACACAGGGGACCGGCC	0.642000														22			13		0	0	0.000151284	0	0
PAPPA	5069	broad.mit.edu	37	9	118949587	118949587	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:118949587C>T	uc004bjn.3	+	1	951	c.570C>T	c.(568-570)agC>agT	p.S190S	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	190					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCACCGCAGCTACCTCCCAG	0.547000														51			7		0	0	8.12818e-05	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290697	15290697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:15290697G>A	uc001iob.3	-	4	702	c.695C>T	c.(694-696)aCg>aTg	p.T232M		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	232						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCTGCTCTGCGTGGCCAGGGG	0.602000														55			12		0	0	0.000308642	0	0
KIAA1751	85452	broad.mit.edu	37	1	1887037	1887037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:1887037C>T	uc001aim.1	-	17	2425	c.2269G>A	c.(2269-2271)Gaa>Aaa	p.E757K	KIAA1751_uc009vkz.1_Intron	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	757										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TCTCTACTTTCCAGCCCTCCC	0.567000														97			25		0	0	0.000227799	0	0
PARP15	165631	broad.mit.edu	37	3	122335876	122335876	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:122335876G>T	uc003efm.2	+	5	931	c.865G>T	c.(865-867)Gtc>Ttc	p.V289F	PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Missense_Mutation_p.V36F|PARP15_uc003efp.1_Missense_Mutation_p.V55F|PARP15_uc011bjt.1_Missense_Mutation_p.V55F	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	267	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GGTCGGGACTGTCTCTAAGCC	0.443000														87			23		3.73988e-18	4.29715e-17	0.000147802	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50189746	50189746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:50189746G>A	uc009zlk.2	-	7	2099	c.1897C>T	c.(1897-1899)Ccc>Tcc	p.P633S	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Missense_Mutation_p.P226S	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	629										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTGCGGCCGGGATGGGGAGAC	0.647000														5			4		0	0	0.00024832	0	0
NLRP2	55655	broad.mit.edu	37	19	55493003	55493003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:55493003G>A	uc021vbq.1	+	4	527	c.416G>A	c.(415-417)gGa>gAa	p.G139E	NLRP2_uc010yfp.2_Missense_Mutation_p.G116E|NLRP2_uc002qij.3_Missense_Mutation_p.G139E|NLRP2_uc010esp.3_Intron|NLRP2_uc010esn.3_Missense_Mutation_p.G115E|NLRP2_uc010eso.3_Missense_Mutation_p.G136E	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	139					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAACGAAAGGAAATGTCATC	0.403000														74			16		0	0	0.000175454	0	0
DSG4	147409	broad.mit.edu	37	18	28993439	28993439	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr18:28993439C>T	uc002kwr.2	+	14	3196	c.3061C>T	c.(3061-3063)Caa>Taa	p.Q1021*	DSG4_uc002kwq.2_Nonsense_Mutation_p.Q1002*	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	1002					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCAGAAATTCAAGTGATGCA	0.488000														81			25		0	0	0.000586117	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197118	71197118	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:71197118G>A	uc001xmm.3	-	11	3294	c.3294C>T	c.(3292-3294)atC>atT	p.I1098I	MAP3K9_uc010ttk.2_Silent_p.I826I|MAP3K9_uc001xmk.3_Silent_p.I831I|MAP3K9_uc001xml.3_Silent_p.I1112I	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	1098					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACTCCTGCTGGATCTCATAAG	0.627000														34			9		0	0	0.000442599	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883352	228883352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:228883352C>T	uc002vpq.2	-	6	2265	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E740K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E740K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	740						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGATGGTCTCCTTAGAAAGG	0.478000														62			23		0	0	0.000229342	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188125	140188125	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:140188125C>T	uc003lhi.2	+	0	1454	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.N451N|PCDHAC2_uc011daa.2_Silent_p.N451N	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	465	Cadherin 4.				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)			TGAACGACAACGCTCCGGCGT	0.647000														34			12		0	0	6.40141e-05	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261828	21261828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:21261828G>A	uc010bwp.1	+	1	984	c.941G>A	c.(940-942)gGt>gAt	p.G314D	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	314										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GCTGATGAGGGTGCAGCTGAT	0.502000														27			7		0	0	8.12818e-05	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962509	73962509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:73962509C>T	uc004eby.3	-	2	2500	c.1883G>A	c.(1882-1884)cGa>cAa	p.R628Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	628					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			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						TTTAGATTTTCGTTTGCGAGC	0.418000														8			6		0	0	0.000157383	0	0
WDR16	146845	broad.mit.edu	37	17	9489185	9489185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:9489185G>A	uc010coc.3	+	2	425	c.196G>A	c.(196-198)Gag>Aag	p.E66K	WDR16_uc002gly.3_Missense_Mutation_p.E56K|WDR16_uc002glz.3_Intron			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	56						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATACTAAAGAGCAGAACTT	0.488000														74			28		0	0	0.000184323	0	0
TMEM131	23505	broad.mit.edu	37	2	98453576	98453576	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:98453576G>A	uc002syh.4	-	7	997	c.768C>T	c.(766-768)ctC>ctT	p.L256L	TMEM131_uc010yvg.1_Non-coding_Transcript	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	256						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GACCCGTTGGGAGTTCTAGGT	0.438000														47			8		0	0	0.000673444	0	0
FCHSD2	9873	broad.mit.edu	37	11	72552619	72552619	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:72552619A>G	uc009ytl.3	-	17	2157	c.1936T>C	c.(1936-1938)Tcc>Ccc	p.S646P	FCHSD2_uc010rrg.2_Missense_Mutation_p.S510P|FCHSD2_uc001oth.4_Missense_Mutation_p.S590P|ATG16L2_uc009ytj.2_Intron	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	646							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GGCTTGGGGGAAGGAGAGATC	0.607000														113			36		0	0	0.000319135	0	0
CYP2J2	1573	broad.mit.edu	37	1	60373474	60373474	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:60373474G>A	uc001czq.3	-	5	992	c.987C>T	c.(985-987)ctC>ctT	p.L329L		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	329					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TTTCTGGGTAGAGGGCCATAT	0.527000														40			13		0	0	0.000308642	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977993	53977993	+	Silent	SNP	G	A	A	rs141354765	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:53977993G>A	uc002rxi.4	-	2	501	c.396C>T	c.(394-396)atC>atT	p.I132I	GPR75-ASB3_uc021vhl.1_Silent_p.I21I|GPR75-ASB3_uc002rxg.2_Silent_p.I94I|GPR75-ASB3_uc002rxh.2_Silent_p.I21I|GPR75-ASB3_uc010yoo.2_Silent_p.I94I	NM_001164165	NP_665862	Q2TAI4	Q2TAI4_HUMAN	Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA.	129					intracellular signal transduction												GAATCTGTACGATTTTCCAAT	0.388000														49			10		0	0	0.000673444	0	0
RCAN2	10231	broad.mit.edu	37	2	174096940	174096940	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:174096940C>T	uc002uhz.3	+	12	1253	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTCAGCAGCTCGTCAGAAAAG	0.378000														87			19		0	0	0.000295444	0	0
HOXC11	3227	broad.mit.edu	37	12	54367074	54367074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:54367074G>A	uc001sem.3	+	0	165	c.49G>A	c.(49-51)Gag>Aag	p.E17K		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	17					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						GTCGCGCAAGGAGAGGGGCGC	0.597000			T	NUP98	AML									26			15		0	0	0.000132079	0	0
RGPD3	653489	broad.mit.edu	37	2	107040666	107040666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:107040666C>T	uc010ywi.1	-	19	3814	c.3757G>A	c.(3757-3759)Gat>Aat	p.D1253N		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1253					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCCCTTAAATCATAGTTATCC	0.433000														156			55		0	0	0.000781405	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912689	94912689	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:94912689C>A	uc001ydd.1	-	2	956	c.896G>T	c.(895-897)tGg>tTg	p.W299L		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	299					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CAATTGGCCCCATTTTCTCAG	0.552000														51			16		3.52763e-06	4.02661e-05	0.000566183	1	0
ACSM2B	348158	broad.mit.edu	37	16	20548615	20548615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:20548615C>T	uc002dhj.4	-	14	1909	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	ACSM2B_uc002dhk.4_Missense_Mutation_p.E567K	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	567					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATCTTCCACTCCTTGTCTCGA	0.478000														132			27		0	0	0.000491102	0	0
YTHDF1	54915	broad.mit.edu	37	20	61835093	61835093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:61835093G>A	uc002yeh.3	-	3	493	c.199C>T	c.(199-201)Cct>Tct	p.P67S	YTHDF1_uc011aaq.2_Missense_Mutation_p.P17S	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	67										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AGGGAGTAAGGAAATCCAATG	0.512000														21			5		0	0	0.000602214	0	0
RGPD4	285190	broad.mit.edu	37	2	108488724	108488724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:108488724G>A	uc010ywk.2	+	19	4346	c.4264G>A	c.(4264-4266)Ggg>Agg	p.G1422R	RGPD4_uc002tdu.3_Missense_Mutation_p.G609R|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1422	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAATATGAAAGGGACAGAAAG	0.378000														224			51		0	0	0.000781405	0	0
GPR98	84059	broad.mit.edu	37	5	89990440	89990440	+	Missense_Mutation	SNP	G	A	A	rs146526977	by1000genomes	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:89990440G>A	uc003kju.3	+	32	7963	c.7867G>A	c.(7867-7869)Gaa>Aaa	p.E2623K	GPR98_uc003kjt.3_Missense_Mutation_p.E329K|GPR98_uc003kjv.3_Missense_Mutation_p.E223K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2623					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)		AGTGGCAGTCGAATGGCGTGT	0.473000														55			10		0	0	0.000442599	0	0
TTC16	158248	broad.mit.edu	37	9	130489680	130489680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:130489680G>A	uc004brq.1	+	11	1767	c.1700G>A	c.(1699-1701)gGa>gAa	p.G567E	PTRH1_uc011mah.2_5'Flank|TTC16_uc011mai.1_Missense_Mutation_p.G554E|TTC16_uc004brr.1_Missense_Mutation_p.G417E|TTC16_uc010mxn.1_Missense_Mutation_p.G163E	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	567							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GTAAAACCGGGAAGCTCAGAG	0.592000														6			4		0	0	0.00024832	0	0
PTPRB	5787	broad.mit.edu	37	12	70946574	70946574	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:70946574C>T	uc001swb.4	-	18	4746	c.4716G>A	c.(4714-4716)aaG>aaA	p.K1572K	PTPRB_uc010sto.2_Silent_p.K1482K|PTPRB_uc010stp.2_Silent_p.K1482K|PTPRB_uc001swc.4_Silent_p.K1790K|PTPRB_uc001swa.4_Silent_p.K1702K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1572					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGTGTGTGGCTTCAGTGGTC	0.453000														37			8		0	0	0.000442599	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166623	96166624	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:96166623_96166624GG>TT	uc022ayk.1	+	0	351_352	c.351_352GG>TT	c.(349-354)acggag>acTTag	p.E118*	PLEKHF2_uc003yhn.2_Nonsense_Mutation_p.E118*	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	118	PH.					transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					CCACTGCTACGGAGAAATCAGA	0.396000														455			18		0	0	6.4e-05	0	0
ST18	9705	broad.mit.edu	37	8	53073993	53073993	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:53073993G>A	uc003xqz.2	-	8	1692	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	ST18_uc011ldq.1_Silent_p.F159F|ST18_uc011ldr.1_Silent_p.F477F|ST18_uc011lds.1_Silent_p.F417F|ST18_uc003xra.2_Silent_p.F512F|ST18_uc003xrb.2_Silent_p.F512F	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGCGTTTACCGAAAACTTGGG	0.438000														72			20		0	0	0.000375601	0	0
APCDD1L	164284	broad.mit.edu	37	20	57045666	57045666	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:57045666C>T	uc010zzp.1	-	3	545	c.221_splice	c.e3+1	p.G74_splice	APCDD1L_uc002xze.1_Splice_Site_p.G63_splice	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	63						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			AAGTCTTACCCTGTGGAGATC	0.567000														5			4		0	0	3.59834e-05	0	0
SIK1	150094	broad.mit.edu	37	21	44841562	44841562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr21:44841562G>A	uc002zdf.2	-	4	582	c.455C>T	c.(454-456)aCc>aTc	p.T152I		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	152	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GAGGTTCTCGGTCTTGAGGTC	0.617000														15			4		0	0	0.00024832	0	0
OR51V1	283111	broad.mit.edu	37	11	5221254	5221254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5221254G>A	uc010qyz.2	-	0	677	c.677C>T	c.(676-678)tCc>tTc	p.S226F		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGATGTAGGAGAAAAGGAT	0.448000														42			7		0	0	0.000157383	0	0
OR51I2	390064	broad.mit.edu	37	11	5475407	5475407	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5475407C>T	uc010qzf.2	+	0	770	c.689C>T	c.(688-690)tCc>tTc	p.S230F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACTGCTTCCCGTGAGGAA	0.478000														88			23		0	0	0.000295444	0	0
TRIM51	84767	broad.mit.edu	37	11	55653186	55653186	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:55653186G>A	uc010rip.2	+	1	374	c.282G>A	c.(280-282)ggG>ggA	p.G94G	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	94						intracellular	zinc ion binding										AAATATGTGGGATGCACAGAG	0.478000														22			5		0	0	0.000602214	0	0
LHX9	56956	broad.mit.edu	37	1	197898258	197898258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:197898258C>T	uc001guk.1	+	4	1500	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	LHX9_uc001gui.1_Missense_Mutation_p.P346S|LHX9_uc021pgw.1_Intron	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	355					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AGCTCTCACTCCACCCGGCAC	0.572000														56			13		0	0	0.000422831	0	0
TTN	7273	broad.mit.edu	37	2	179455686	179455686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:179455686G>A	uc021vsy.1	-	252	53287	c.53062C>T	c.(53062-53064)Cct>Tct	p.P17688S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P11383S|TTN_uc021vta.1_Missense_Mutation_p.P11316S|TTN_uc021vtb.1_Missense_Mutation_p.P11191S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18615	Fibronectin type-III 28.						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)			TCAAGGGGAGGACCAACACCT	0.453000														120			24		0	0	0.000147802	0	0
CD5L	922	broad.mit.edu	37	1	157805633	157805633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:157805633G>A	uc001frk.4	-	2	511	c.368C>T	c.(367-369)tCg>tTg	p.S123L		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	123	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTCTCACACGATGCCCCAGC	0.502000														66			24		0	0	0.000878237	0	0
WDR49	151790	broad.mit.edu	37	3	167248902	167248902	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:167248902C>T	uc003fev.1	-	9	1466	c.1162_splice	c.e9+1	p.G388_splice	WDR49_uc003feu.1_Splice_Site_p.G213_splice|WDR49_uc011bpd.1_Splice_Site_p.G452_splice|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	388										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATATATTTTACCTGTCACTGC	0.358000														33			7		0	0	8.12818e-05	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602891	138602891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:138602891G>A	uc011kql.2	-	1	1530	c.1481C>T	c.(1480-1482)tCt>tTt	p.S494F	KIAA1549_uc011kqj.2_Missense_Mutation_p.S494F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	494	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGATCTAGAAGAAAGTGGGAC	0.483000			O	BRAF	pilocytic astrocytoma									15			9		0	0	0.000274275	0	0
BPIFA1	51297	broad.mit.edu	37	20	31829239	31829239	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:31829239C>T	uc002wyt.4	+	5	700	c.630C>T	c.(628-630)atC>atT	p.I210I	BPIFA1_uc002wyu.4_Silent_p.I210I|BPIFA1_uc002wyv.3_Silent_p.I210I	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	210					innate immune response	extracellular region	lipid binding	p.I210I(1)									TCACAGGGATCTTGAATAAAG	0.507000														128			38		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9059806	9059806	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:9059806T>C	uc002mkp.3	-	2	27844	c.27640A>G	c.(27640-27642)Act>Gct	p.T9214A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9216	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						GTGACTTCAGTGATGGCCAGT	0.488000														59			17		0	0	0.000229342	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323046	61323046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr18:61323046C>T	uc002lji.3	-	7	1162	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.G288R	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	340					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						GCTTCTGCTCCCTCCTCTGTA	0.507000														57			10		0	0	0.000673444	0	0
AMPD3	272	broad.mit.edu	37	11	10524388	10524389	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:10524388_10524389GG>AT	uc001min.1	+	12	2335_2336	c.1990_1991GG>AT	c.(1990-1992)gga>ATa	p.G664I	AMPD3_uc010rbz.1_Missense_Mutation_p.G496I|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.G655I|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.G662I|AMPD3_uc009yfy.2_Missense_Mutation_p.G655I	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	655	Substrate binding (By similarity).				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCTACACAAGGGACTGCATGTT	0.495000														42			8		0	0	6.4e-05	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933457	31933458	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr21:31933457_31933458GG>AA	uc011adb.2	-	0	151_152	c.151_152CC>TT	c.(151-153)cca>TTa	p.P51L		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	Homo sapiens keratin associated protein 19-7 (KRTAP19-7), mRNA.	51						intermediate filament		p.P51Q(2)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						ATAGCATGATGGGTGGCAGCAG	0.470000														90			22		0	0	6.4e-05	0	0
RRP36	88745	broad.mit.edu	37	6	42995176	42995176	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:42995176C>G	uc003otp.1	+	5	612	c.604C>G	c.(604-606)Cag>Gag	p.Q202E		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	202					rRNA processing|ribosomal small subunit biogenesis	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						ACGTCGGGCTCAGGCCCAGCA	0.567000														36			14		0	0	0.000151284	0	0
C20orf94	128710	broad.mit.edu	37	20	10541454	10541455	+	Missense_Mutation	DNP	CC	GG	GG			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:10541454_10541455CC>GG	uc010zre.2	+	3	404_405	c.224_225CC>GG	c.(223-225)ccc>cGG	p.P75R		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	75							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						AGATCCAATCCCTTGTCCTTAA	0.386000														33			11		0	0	6.4e-05	0	0
TRIT1	54802	broad.mit.edu	37	1	40310205	40310205	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:40310205G>A	uc021olz.1	-	8	1128	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	TRIT1_uc001ced.4_Nonsense_Mutation_p.Q68*|TRIT1_uc001cee.4_Non-coding_Transcript|TRIT1_uc001cef.4_Non-coding_Transcript|TRIT1_uc001ceg.4_Nonsense_Mutation_p.Q126*|TRIT1_uc001ceh.4_Nonsense_Mutation_p.Q126*|TRIT1_uc009vvv.3_Nonsense_Mutation_p.Q205*|TRIT1_uc001cei.4_Nonsense_Mutation_p.Q126*|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_Nonsense_Mutation_p.Q68*|TRIT1_uc001cek.3_Nonsense_Mutation_p.Q68*|TRIT1_uc009vvx.3_Non-coding_Transcript|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Nonsense_Mutation_p.Q290*|TRIT1_uc001cen.3_Nonsense_Mutation_p.Q126*|TRIT1_uc001ceo.3_Nonsense_Mutation_p.Q126*|TRIT1_uc001cep.3_Nonsense_Mutation_p.Q126*	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	372					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATAATTACCTGGATGAAACTT	0.413000														27			8		0	0	0.000442599	0	0
STAB1	23166	broad.mit.edu	37	3	52557285	52557285	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:52557285G>A	uc003dej.3	+	63	7142	c.7068G>A	c.(7066-7068)ctG>ctA	p.L2356L	STAB1_uc003dek.1_Silent_p.L371L|STAB1_uc003del.3_Silent_p.L243L	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2356	FAS1 7.				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)		TCGACTTCCTGGACTTCCTGG	0.557000														51			26		0	0	0.000147802	0	0
DNAH6	1768	broad.mit.edu	37	2	84784929	84784929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:84784929C>T	uc010fgb.3	+	10	1810	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L	DNAH6_uc002soo.3_Missense_Mutation_p.S137L|DNAH6_uc002sop.3_Missense_Mutation_p.S137L	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	558	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S558*(2)|p.S137*(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTGCCTGATTCGTATTTTGAT	0.378000														127			21		0	0	0.000295444	0	0
ATR	545	broad.mit.edu	37	3	142268424	142268424	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:142268424A>G	uc003eux.4	-	14	3190	c.3068T>C	c.(3067-3069)gTc>gCc	p.V1023A		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1023					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTACGATTGACATTTAATTG	0.358000								Other conserved DNA damage response genes						31			7		0	0	8.12818e-05	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256299	15256299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:15256299C>T	uc001iob.3	-	7	1295	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	430						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GAGAGGAGCTCCTCCCGGGAG	0.542000														31			13		0	0	0.00010058	0	0
FCN2	2220	broad.mit.edu	37	9	137779172	137779172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:137779172G>A	uc004cfg.1	+	7	863	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	FCN2_uc004cfh.1_Missense_Mutation_p.G247S	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	285	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	p.H284R(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGGGACTCATGGCAGCTTTGC	0.507000														31			10		0	0	0.000442599	0	0
MKNK1	8569	broad.mit.edu	37	1	47027272	47027272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:47027272G>A	uc001cqb.3	-	11	1250	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	MKNK1_uc010omd.2_Missense_Mutation_p.P200S|MKNK1_uc001cqc.3_Missense_Mutation_p.P295S|MKNK1_uc009vyi.3_Missense_Mutation_p.P295S|MKNK1_uc010ome.2_Missense_Mutation_p.P200S|MKNK1_uc009vyj.3_3'UTR|LOC100507423_uc021onb.1_Intron	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 1, mRNA.	336	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCCTTGTCAGGAAACTCATAC	0.527000														40			4		0	0	3.59834e-05	0	0
C16orf91	283951	broad.mit.edu	37	16	1470510	1470510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:1470510G>A	uc010uvd.2	-	3	607	c.607C>T	c.(607-609)Cct>Tct	p.P203S	C16orf91_uc002clr.3_Missense_Mutation_p.P46S	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA.	46						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GGGCGGTCAGGGTCGTCCTCT	0.657000														10			3		0	0	0.00024832	0	0
ABCA13	154664	broad.mit.edu	37	7	48266947	48266947	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:48266947C>A	uc003toq.2	+	5	581	c.557C>A	c.(556-558)cCg>cAg	p.P186Q	ABCA13_uc003top.2_Missense_Mutation_p.P186Q|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	186					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						CTTTTACTGCCGAGACTACAC	0.418000														104			6		8.12818e-05	0.000917727	8.12818e-05	1	0
PMFBP1	83449	broad.mit.edu	37	16	72170400	72170400	+	Missense_Mutation	SNP	C	G	G	rs149950926	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:72170400C>G	uc002fcc.4	-	8	1322	c.1150G>C	c.(1150-1152)Gag>Cag	p.E384Q	PMFBP1_uc002fcd.3_Missense_Mutation_p.E384Q|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.E239Q	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	384								p.E384Q(2)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGCTGCAGCTCCTGCAGCCGG	0.557000														51			16		0	0	9.7654e-05	0	0
abParts	0	broad.mit.edu	37	2	89476122	89476122	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:89476122C>T	uc021vkt.1	-	32		c.3431_splice	c.e32-1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		CCCACTGGATCCTGAAATAAT	0.408000														68			13		0	0	0.000422831	0	0
abParts	0	broad.mit.edu	37	14	107170347	107170347	+	RNA	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:107170347G>A	uc021ser.1	-	42		c.2619C>T								Parts of antibodies, mostly variable regions.																		CCACAAAGAGGAACCTCCAGG	0.507000														68			9		0	0	0.000442599	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136335	103136335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:103136335G>A	uc002tbz.4	+	8	2196	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	580					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGATACAAGGAATCAAAAGA	0.453000														38			6		0	0	8.12818e-05	0	0
EIF2S1	1965	broad.mit.edu	37	14	67831653	67831653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:67831653C>T	uc001xjg.3	+	1	310	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C		NM_004094	NP_004085	P05198	IF2A_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa (EIF2S1), mRNA.	57	S1 motif.					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		AAGGCGTATCCGTTCTATCAA	0.393000														82			19		0	0	0.000295444	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409576	153409576	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	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														66			28		0	0	0.000227799	0	0
CYP19A1	1588	broad.mit.edu	37	15	51535100	51535100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:51535100C>T	uc001zyz.4	-	2	261	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	CYP19A1_uc001zza.4_Missense_Mutation_p.E4K|CYP19A1_uc001zzb.2_Missense_Mutation_p.E4K|CYP19A1_uc001zzd.3_Missense_Mutation_p.E4K|CYP19A1_uc010bey.1_Missense_Mutation_p.E4K|CYP19A1_uc001zze.2_Non-coding_Transcript	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	4					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TTCAGCATTTCCAAAACCATC	0.468000														101			25		0	0	0.000184323	0	0
SPTA1	6708	broad.mit.edu	37	1	158609424	158609424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:158609424C>T	uc001fst.1	-	34	5127	c.4928G>A	c.(4927-4929)gGa>gAa	p.G1643E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1643					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGTAGGTTTCCTGCTGAAGC	0.468000														82			27		0	0	0.000409698	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058684	79058684	+	Missense_Mutation	SNP	G	A	A	rs35827199		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:79058684G>A	uc002bej.4	-	18	3780	c.3569C>T	c.(3568-3570)cCt>cTt	p.P1190L	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1190					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TTGGCTCTCAGGGGTGGCAGG	0.602000														22			4		0	0	0.00024832	0	0
AAK1	22848	broad.mit.edu	37	2	69734626	69734626	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:69734626G>A	uc002sfp.2	-	14	2596	c.2091C>T	c.(2089-2091)ccC>ccT	p.P697P	AAK1_uc010fdk.2_Silent_p.P697P|AAK1_uc010yqm.1_Silent_p.P698P	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	697						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CGTCATCAAAGGGATTCCACG	0.468000														22			6		0	0	8.12818e-05	0	0
NUP214	8021	broad.mit.edu	37	9	134006221	134006221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:134006221C>T	uc004cag.3	+	4	772	c.661C>T	c.(661-663)Cct>Tct	p.P221S	NUP214_uc004cah.3_Missense_Mutation_p.P221S|NUP214_uc004caf.1_Missense_Mutation_p.P221S	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	221					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	p.L220F(1)		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)		CCAGTATCTTCCTGTAAGTTC	0.398000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									37			13		0	0	0.000151284	0	0
ZNF652	22834	broad.mit.edu	37	17	47376020	47376020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:47376020G>A	uc002iov.4	-	5	2040	c.1576C>T	c.(1576-1578)Cca>Tca	p.P526S	ZNF652_uc002iow.3_Missense_Mutation_p.P526S|ZNF652_uc002iou.4_Non-coding_Transcript	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	526	Mediates interaction with CBFA2T3.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GGAGGGGTTGGGGTTGTGGCT	0.592000														9			6		0	0	8.12818e-05	0	0
SLC17A2	10246	broad.mit.edu	37	6	25923937	25923937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:25923937C>T	uc011dkb.2	-	1	309	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	SLC17A2_uc011dkc.2_Missense_Mutation_p.E76K|SLC17A2_uc003nfl.3_Missense_Mutation_p.E76K			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	76					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTATCAAATTCCTTGATGGAT	0.433000														146			106		0	0	0.000781405	0	0
CASP1	834	broad.mit.edu	37	11	104915239	104915239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:104915239C>T	uc001pip.1	-	1	181	c.154G>A	c.(154-156)Gat>Aat	p.D52N	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_Missense_Mutation_p.D52N	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	52	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CGGGTCTTATCCATAACTGTA	0.418000														114			30		0	0	0.00058488	0	0
DDR2	4921	broad.mit.edu	37	1	162688866	162688866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:162688866C>T	uc001gcf.3	+	3	478	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	DDR2_uc001gcg.3_Missense_Mutation_p.P5S	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	5					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GATCCTGATTCCCAGAATGCT	0.453000														84			18		0	0	0.000132079	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348010	38348010	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:38348010A>T	uc003cib.2	+	0	566	c.493A>T	c.(493-495)Aag>Tag	p.K165*	SLC22A14_uc010hhc.1_Nonsense_Mutation_p.K165*|SLC22A14_uc003cia.2_Nonsense_Mutation_p.K165*|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	165						integral to plasma membrane	organic cation transmembrane transporter activity	p.K165N(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TCCTGACGCTAAGAAGCGATC	0.498000														72			18		0	0	0.000132079	0	0
ARPP21	10777	broad.mit.edu	37	7	38305255	38305255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:38305255G>A	uc003tge.1	-	4	829	c.452C>T	c.(451-453)tCc>tTc	p.S151F	ARPP21_uc022aby.1_5'UTR|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_5'UTR|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding	p.H150Q(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						GGGCTTGGGGGAAACATCTGC	0.378000														126			46		0	0	0.000781405	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829450	146829450	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:146829450C>T	uc003weu.2	+	7	1713	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	399					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGTCAGTTTCCAGTTTAGGA	0.493000										HNSCC(39;0.1)				20			15		0	0	0.000308642	0	0
SP140L	93349	broad.mit.edu	37	2	231254723	231254723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:231254723G>A	uc010fxm.1	+	10	1040	c.949G>A	c.(949-951)Gag>Aag	p.E317K	SP140L_uc010fxo.1_Intron	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	317	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TTTACATAAGGAGAAATTGGA	0.398000														32			8		0	0	0.000274275	0	0
SSH1	54434	broad.mit.edu	37	12	109186337	109186337	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:109186337G>A	uc001tnm.3	-	13	1705	c.1618C>T	c.(1618-1620)Ctg>Ttg	p.L540L	SSH1_uc001tnl.3_Silent_p.L228L|SSH1_uc010sxg.2_Silent_p.L551L|SSH1_uc001tnn.4_Silent_p.L540L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	540					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCTCCAACAGAGCCTCCCTC	0.602000														58			18		0	0	0.000175454	0	0
HEATR8	374977	broad.mit.edu	37	1	55167824	55167824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:55167824G>A	uc010ooe.1	+	19	3671	c.3347G>A	c.(3346-3348)cGg>cAg	p.R1116Q	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.R634Q|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.R318Q	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1116						integral to membrane	binding	p.R1116H(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGAAGCTTCGGGCACCACGC	0.617000														12			4		0	0	0.000602214	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747577	68747577	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:68747577C>T	uc010rqf.2	-	0	879	c.879G>A	c.(877-879)ggG>ggA	p.G293G		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	293						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGAGCACAGTCCCCAGGGACC	0.672000														34			6		0	0	8.12818e-05	0	0
PLCH1	23007	broad.mit.edu	37	3	155199129	155199129	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:155199129G>A	uc021xge.1	-	22	4987	c.4710C>T	c.(4708-4710)ctC>ctT	p.L1570L	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.L1532L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1570					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGCCCGGGGGAGCTGATTGG	0.517000														49			14		0	0	0.000308642	0	0
KNTC1	9735	broad.mit.edu	37	12	123067339	123067339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:123067339G>A	uc001ucv.3	+	33	3233	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1024					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)		TAAAGCTCACGAAGTTGCACA	0.493000														21			4		0	0	0.00024832	0	0
P4HA2	8974	broad.mit.edu	37	5	131539494	131539494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:131539494G>A	uc003kwh.3	-	9	1762	c.1198C>T	c.(1198-1200)Cgt>Tgt	p.R400C	P4HA2_uc003kwg.3_Missense_Mutation_p.R400C|P4HA2_uc003kwi.3_Missense_Mutation_p.R400C|P4HA2_uc003kwk.3_Missense_Mutation_p.R400C|P4HA2_uc003kwl.3_Missense_Mutation_p.R400C|P4HA2_uc003kwj.3_Missense_Mutation_p.R400C	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	400						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TGCATCCGACGATTTACTCGG	0.483000														13			7		0	0	0.000442599	0	0
PCLO	27445	broad.mit.edu	37	7	82544610	82544610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:82544610G>A	uc003uhx.2	-	6	12981	c.12692C>T	c.(12691-12693)tCc>tTc	p.S4231F	PCLO_uc003uhv.2_Missense_Mutation_p.S4231F|PCLO_uc010lec.3_Missense_Mutation_p.S1196F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4162	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4231F(1)		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						TGCCCTGGAGGAAATGCCACC	0.388000														44			10		0	0	6.40141e-05	0	0
C12orf50	160419	broad.mit.edu	37	12	88379685	88379685	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:88379685C>T	uc001tam.1	-	10	1236	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	C12orf50_uc001tan.3_Silent_p.T371T	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	356								p.T356A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AGGACCCATGCGTGGGCCTGC	0.478000														75			17		0	0	0.00074312	0	0
TPTE2	93492	broad.mit.edu	37	13	20025323	20025323	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr13:20025323G>A	uc001umd.3	-	11	995	c.784C>T	c.(784-786)Cga>Tga	p.R262*	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R151*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R185*|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	262	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E262K(5)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTGTAGACTCGATAGTGGTTT	0.338000														49			13		0	0	0.000422831	0	0
TRANK1	9881	broad.mit.edu	37	3	36898977	36898977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:36898977C>T	uc003cgj.3	-	11	2352	c.2104G>A	c.(2104-2106)Gat>Aat	p.D702N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	702					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAAGACGGATCCACTTCAACC	0.552000														18			7		0	0	8.12818e-05	0	0
LRRN2	10446	broad.mit.edu	37	1	204588730	204588730	+	Missense_Mutation	SNP	G	A	A	rs148739326		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:204588730G>A	uc021phy.1	-	0	391	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.R131W|LRRN2_uc001hbf.1_Missense_Mutation_p.R131W|LRRN2_uc009xbf.1_Missense_Mutation_p.R131W|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	131					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCCTCCAGCCGGGTCAGCTGG	0.607000														65			23		0	0	0.000586117	0	0
OR56A3	390083	broad.mit.edu	37	11	5969351	5969351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5969351C>T	uc010qzt.2	+	0	775	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCACCATCCTTCTGGTTTT	0.522000														135			46		0	0	0.000781405	0	0
NUPL1	9818	broad.mit.edu	37	13	25901094	25901094	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr13:25901094C>T	uc001uqi.3	+	10	1318	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	NUPL1_uc001uqg.1_Nonsense_Mutation_p.Q358*|NUPL1_uc001uqj.3_Nonsense_Mutation_p.Q346*	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	Homo sapiens nucleoporin like 1 (NUPL1), transcript variant 1, mRNA.	358	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GGTACAGCTTCAGCAGTACAG	0.348000														68			18		0	0	0.00074312	0	0
C8A	731	broad.mit.edu	37	1	57347137	57347137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:57347137G>A	uc001cyo.2	+	4	616	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	162	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CCTGACCCAGGAAGATGCTCA	0.458000														49			13		0	0	0.000422831	0	0
DSCAM	1826	broad.mit.edu	37	21	42080539	42080539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr21:42080539C>T	uc002yyq.1	-	1	654	c.202G>A	c.(202-204)Gat>Aat	p.D68N	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.	68	Ig-like C2-type 1.				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	p.D68N(2)		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)				CCGGGGACATCGTAGATCTCC	0.562000														29			15		0	0	0.000308642	0	0
HADHA	3030	broad.mit.edu	37	2	26418002	26418002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:26418002C>T	uc002rgy.3	-	14	1709	c.1579G>A	c.(1579-1581)Gca>Aca	p.A527T	HADHA_uc010yks.2_Missense_Mutation_p.A440T	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	527					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGACCAACTGCTACAGCTGAA	0.463000														53			24		0	0	0.000720815	0	0
GABRA4	2557	broad.mit.edu	37	4	46930648	46930648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:46930648G>A	uc003gxg.3	-	8	2242	c.1259C>T	c.(1258-1260)tCt>tTt	p.S420F	GABRA4_uc021xnz.1_Missense_Mutation_p.S401F|GABRA4_uc021xoa.1_Missense_Mutation_p.S350F	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	420					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCTTTAGAAGATTCTTGAAC	0.438000														59			12		0	0	0.000151284	0	0
SNTG2	54221	broad.mit.edu	37	2	1204872	1204872	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:1204872C>T	uc002qwq.3	+	8	804	c.675C>T	c.(673-675)tcC>tcT	p.S225S	SNTG2_uc010ewi.3_Silent_p.S98S	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	225					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGCCTCTGTCCATGGCTCGCA	0.527000														79			21		0	0	0.000375601	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129273	99129273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:99129273G>A	uc003uqv.3	+	6	2045	c.1921G>A	c.(1921-1923)Ggc>Agc	p.G641S	ZKSCAN5_uc010lfx.3_Missense_Mutation_p.G641S|ZKSCAN5_uc003uqw.3_Missense_Mutation_p.G641S|ZKSCAN5_uc003uqx.3_Missense_Mutation_p.G568S|ZKSCAN5_uc003uqy.3_Missense_Mutation_p.G377S	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	641					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATGTGGGAAAGGCTTTGGGAG	0.522000														23			11		0	0	6.40141e-05	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959507	45959507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr21:45959507G>A	uc002zfh.1	-	0	572	c.527C>T	c.(526-528)tCc>tTc	p.S176F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	176	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGGGGAGGAGGTGCAGCA	0.617000														73			19		0	0	9.7654e-05	0	0
CDK18	5129	broad.mit.edu	37	1	205500479	205500479	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:205500479G>A	uc001hcr.3	+	15	1750	c.1488G>A	c.(1486-1488)ggG>ggA	p.G496G	CDK18_uc001hcp.3_Silent_p.G466G|CDK18_uc001hcq.3_Silent_p.G466G|CDK18_uc010prj.2_Silent_p.G377G|CDK18_uc001hcs.3_Silent_p.G377G	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	464							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CAGGACGAGGGAAGAACAGGC	0.617000														33			6		0	0	8.12818e-05	0	0
OIT3	170392	broad.mit.edu	37	10	74690333	74690334	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:74690333_74690334CG>AT	uc001jte.1	+	7	1623_1624	c.1405_1406CG>AT	c.(1405-1407)cgg>ATg	p.R469M	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	469	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GTACACATCCCGGGATCACCTA	0.436000														155			6		0	0	6.4e-05	0	0
WDR6	11180	broad.mit.edu	37	3	49051440	49051440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:49051440C>T	uc003cvj.2	+	1	2701	c.2563C>T	c.(2563-2565)Cca>Tca	p.P855S	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.P303S|WDR6_uc010hkn.2_Missense_Mutation_p.P799S|WDR6_uc011bbz.1_Missense_Mutation_p.P774S	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	825					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCCCAGCACCCCAAGCCGCCT	0.617000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			6		0	0	3.59834e-05	0	0
APBB1IP	54518	broad.mit.edu	37	10	26825130	26825131	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:26825130_26825131CC>AA	uc001iss.3	+	9	1349_1350	c.1028_1029CC>AA	c.(1027-1029)ccc>cAA	p.P343Q	APBB1IP_uc009xks.1_Missense_Mutation_p.P343Q	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	343	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TATTATGTACCCAAAGGAAAGA	0.337000														172			9		0	0	6.4e-05	0	0
GUCY2C	2984	broad.mit.edu	37	12	14849245	14849245	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:14849245G>A	uc001rcd.3	-	0	275	c.138C>T	c.(136-138)gcC>gcT	p.A46A	GUCY2C_uc009zhz.2_Silent_p.A46A	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	46					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						GCTCTGCAAAGGCTGAGTTGC	0.493000														24			5		0	0	3.59834e-05	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808315	18808315	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:18808315G>A	uc001bax.3	+	0	892	c.840G>A	c.(838-840)ggG>ggA	p.G280G	KLHDC7A_uc009vpg.3_Silent_p.G62G	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	280						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCGGAGGGGGTTGAGCCCC	0.597000														52			16		0	0	0.00074312	0	0
OR4C13	283092	broad.mit.edu	37	11	49974865	49974865	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:49974865G>A	uc010rhz.2	+	0	923	c.891G>A	c.(889-891)agG>agA	p.R297R		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGCCATTAGGAAATTGTGTA	0.373000														33			7		0	0	8.12818e-05	0	0
DDR2	4921	broad.mit.edu	37	1	162724418	162724418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:162724418G>A	uc001gcf.3	+	5	655	c.190G>A	c.(190-192)Gac>Aac	p.D64N	DDR2_uc001gcg.3_Missense_Mutation_p.D64N	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	64	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTCAAGGCTGGACTCAGAAGA	0.537000														30			9		0	0	0.000442599	0	0
CLC	1178	broad.mit.edu	37	19	40228586	40228587	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:40228586_40228587GG>TT	uc002omh.3	-	0	83_84	c.6_7CC>AA	c.(4-9)tccctg>tcAAtg	p.L3M		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Homo sapiens Charcot-Leyden crystal protein (CLC), mRNA.	3					lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ACGGGTAGCAGGGACATTGTTG	0.446000														179			11		0	0	6.4e-05	0	0
WDR59	79726	broad.mit.edu	37	16	74949783	74949783	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:74949783C>T	uc002fdh.1	-	12	1311	c.1209G>A	c.(1207-1209)cgG>cgA	p.R403R	WDR59_uc002fdi.3_Silent_p.R403R|WDR59_uc021tli.1_Silent_p.R382R|WDR59_uc002fdg.1_5'UTR	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	403	RWD.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CATTGACATTCCGGATTTGCA	0.453000														62			10		0	0	0.000673444	0	0
ATP5F1	515	broad.mit.edu	37	1	111996858	111996858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:111996858C>T	uc009wgf.1	+	3	560	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	ATP5F1_uc001ebc.3_Missense_Mutation_p.H35Y	NM_001688	NP_001679	P24539	AT5F1_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 (ATP5F1), nuclear gene encoding mitochondrial protein, mRNA.	35					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGGACCTTTCATACAGGGCA	0.423000														82			9		0	0	6.40141e-05	0	0
DNAH11	8701	broad.mit.edu	37	7	21723495	21723495	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:21723495C>A	uc003svc.3	+	32	5606	c.5575C>A	c.(5575-5577)Cag>Aag	p.Q1859K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1859	Stem (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						TTGTGATGCCCAGTTCCAGTA	0.438000									Kartagener syndrome					154			9		0.000673444	0.00752205	0.000673444	1	0
MKL1	57591	broad.mit.edu	37	22	40827452	40827452	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:40827452G>A	uc003ayv.1	-	2	303	c.96C>T	c.(94-96)tcC>tcT	p.S32S	MKL1_uc010gyf.1_Silent_p.S32S|MKL1_uc003ayw.1_Silent_p.S32S|MKL1_uc010gye.1_Silent_p.S32S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	32	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TCTCCGGCCGGGAACGAATCT	0.473000			T	RBM15	acute megakaryocytic leukemia									178			35		0	0	0.000589545	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563915	176563915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:176563915C>T	uc001gkz.3	+	2	2339	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	PAPPA2_uc001gky.1_Missense_Mutation_p.S392F|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	392					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTAGACCAGTCTGGTCCCCTG	0.587000														29			15		0	0	0.000308642	0	0
KCNA1	3736	broad.mit.edu	37	12	5020959	5020959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:5020959G>A	uc001qnh.3	+	1	1520	c.415G>A	c.(415-417)Gag>Aag	p.E139K	KCNA1_uc021qts.1_Missense_Mutation_p.E139K	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	139					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTCATCAAGGAGGAGGAGCG	0.627000														34			7		0	0	8.12818e-05	0	0
MYH1	4619	broad.mit.edu	37	17	10404730	10404730	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:10404730C>T	uc002gmo.3	-	26	3529	c.3435G>A	c.(3433-3435)cgG>cgA	p.R1145R	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1145						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.S1144F(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						CCTCCAGCTCCCGGGAGAGAT	0.607000														55			19		0	0	0.000132079	0	0
DLEC1	9940	broad.mit.edu	37	3	38158037	38158038	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:38158037_38158038GG>AA	uc003chp.1	+	27	3971_3972	c.3950_3951GG>AA	c.(3949-3951)cgg>cAA	p.R1317Q	DLEC1_uc003cho.1_Missense_Mutation_p.R1317Q|DLEC1_uc010hgv.1_Missense_Mutation_p.R1320Q|DLEC1_uc003chr.1_Missense_Mutation_p.R388Q|DLEC1_uc010hgx.1_Non-coding_Transcript|DLEC1_uc003chs.1_5'Flank	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1317					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTCCCGCTGCGGGACCAAGCCG	0.599000														38			8		0	0	6.4e-05	0	0
LTBP2	4053	broad.mit.edu	37	14	74969553	74969553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:74969553C>T	uc001xqa.3	-	33	5360	c.4973G>A	c.(4972-4974)gGc>gAc	p.G1658D		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1658					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGCCCGGGGCCATACTCATA	0.647000														26			5		0	0	8.12818e-05	0	0
PDP2	57546	broad.mit.edu	37	16	66918893	66918893	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:66918893C>T	uc021tjw.1	+	0	706	c.706C>T	c.(706-708)Cag>Tag	p.Q236*	PDP2_uc002eqk.2_Nonsense_Mutation_p.Q236*	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	236					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GTACTCCTTCCAGAGACTGGA	0.498000														36			8		0	0	0.000274275	0	0
SOS2	6655	broad.mit.edu	37	14	50623718	50623718	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:50623718T>C	uc001wxs.4	-	12	2155	c.2057_splice	c.e12+1	p.R686_splice	SOS2_uc010tql.2_Splice_Site_p.R653_splice|SOS2_uc010tqm.1_Splice_Site|SOS2_uc001wxt.2_Missense_Mutation_p.R374G	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	686	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AAGCCAAACCTAAGTTGTACT	0.333000														2			4		0	0	0.00024832	0	0
HYDIN	54768	broad.mit.edu	37	16	70926413	70926413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:70926413C>T	uc002ezr.3	-	55	9416	c.9265G>A	c.(9265-9267)Ggg>Agg	p.G3089R		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3090										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)				GTTGAAATCCCTACAGAGTCC	0.433000														24			7		0	0	6.40141e-05	0	0
ELMOD1	55531	broad.mit.edu	37	11	107526672	107526672	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:107526672A>G	uc010rvs.2	+	10	1116	c.712A>G	c.(712-714)Att>Gtt	p.I238V	ELMOD1_uc001pjm.3_Missense_Mutation_p.I230V|ELMOD1_uc010rvt.2_Missense_Mutation_p.I232V	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	238	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CTCATTTGCAATTGTGGGCAT	0.393000														15			3		0	0	0.000602214	0	0
TEX11	56159	broad.mit.edu	37	X	70099868	70099868	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:70099868C>T	uc004dyl.3	-	3	336	c.174G>A	c.(172-174)agG>agA	p.R58R	TEX11_uc004dym.3_Silent_p.R43R	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	58							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)					CCATAGACTCCCTGTTGATAT	0.318000														22			15		0	0	0.000219431	0	0
HTR3B	9177	broad.mit.edu	37	11	113802541	113802541	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:113802541C>T	uc001pok.3	+	3	458	c.320C>T	c.(319-321)tCc>tTc	p.S107F	HTR3B_uc001pol.3_Missense_Mutation_p.S96F	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	107					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		AGAGAGATCTCCCTACCTCTA	0.423000														59			11		0	0	0.000219431	0	0
EDEM1	9695	broad.mit.edu	37	3	5252853	5252854	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:5252853_5252854CC>TT	uc003bqi.3	+	9	1764_1765	c.1632_1633CC>TT	c.(1630-1635)gaccgg>gaTTgg	p.R545W	EDEM1_uc021wsl.1_Missense_Mutation_p.R350W	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	545					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CCACAGAAGACCGGATGGAGAG	0.465000														44			7		0	0	6.4e-05	0	0
C2orf71	388939	broad.mit.edu	37	2	29294356	29294356	+	Silent	SNP	C	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:29294356C>A	uc002rmt.2	-	0	2772	c.2772G>T	c.(2770-2772)ctG>ctT	p.L924L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	924					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						GTGGGCTGCTCAGGTCCAGGG	0.672000														20			5		0.000602214	0.00675544	0.000602214	1	0
STAB1	23166	broad.mit.edu	37	3	52548813	52548813	+	Missense_Mutation	SNP	C	A	A	rs142311027		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:52548813C>A	uc003dej.3	+	34	3849	c.3775C>A	c.(3775-3777)Cgc>Agc	p.R1259S		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1259					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)		GGGCTCAAGTCGCTGCCTGCA	0.677000														19			10		1.08611e-07	1.2452e-06	6.40141e-05	1	0
PEG3	5178	broad.mit.edu	37	19	57327997	57327997	+	Missense_Mutation	SNP	C	T	T	rs55885735	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:57327997C>T	uc002qnu.2	-	6	2164	c.1813G>A	c.(1813-1815)Ggg>Agg	p.G605R	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G576R|PEG3_uc002qnv.2_Missense_Mutation_p.G605R|PEG3_uc002qnw.2_Missense_Mutation_p.G481R|PEG3_uc002qnx.2_Missense_Mutation_p.G479R|PEG3_uc010etr.2_Missense_Mutation_p.G605R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	605					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G605V(2)|p.R604H(1)|p.R604C(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGGTTTCCCCGCGCtcacgt	0.458000														10			11		0	0	6.40141e-05	0	0
ADD1	118	broad.mit.edu	37	4	2900018	2900018	+	Silent	SNP	A	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:2900018A>G	uc003gfq.3	+	6	1037	c.849A>G	c.(847-849)aaA>aaG	p.K283K	ADD1_uc010ico.1_Silent_p.K283K|ADD1_uc003gfo.3_Silent_p.K283K|ADD1_uc003gfp.3_Silent_p.K283K|ADD1_uc003gfr.3_Silent_p.K283K|ADD1_uc003gfs.3_Silent_p.K283K|ADD1_uc003gft.3_Silent_p.K283K|ADD1_uc003gfu.3_Silent_p.K33K	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	283					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGAGGAAAAAGTTTTGATTC	0.428000														58			15		0	0	0.000422831	0	0
ANO2	57101	broad.mit.edu	37	12	5939637	5939637	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:5939637C>T	uc001qnm.2	-	5	864	c.792G>A	c.(790-792)aaG>aaA	p.K264K	ANO2_uc021qtt.1_Silent_p.K268K	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	269						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						AGAAGGTGTCCTTTTCCTGGA	0.488000														19			9		0	0	6.40141e-05	0	0
AFF2	2334	broad.mit.edu	37	X	148037975	148037975	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:148037975C>T	uc004fcp.3	+	10	2879	c.2400C>T	c.(2398-2400)aaC>aaT	p.N800N	AFF2_uc004fcq.3_Silent_p.N790N|AFF2_uc004fcr.3_Silent_p.N761N|AFF2_uc011mxb.2_Silent_p.N765N|AFF2_uc004fcs.3_Silent_p.N767N|AFF2_uc011mxc.2_Silent_p.N441N	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	800					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGAAAAACCTCTGGGTGA	0.478000														30			23		0	0	0.000586117	0	0
TOR1A	1861	broad.mit.edu	37	9	132584974	132584974	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:132584974G>A	uc004byl.3	-	1	407	c.330C>T	c.(328-330)ttC>ttT	p.F110F	TOR1A_uc004byn.3_Silent_p.F110F	NM_000113	NP_000104	O14656	TOR1A_HUMAN	Homo sapiens torsin family 1, member A (torsin A) (TOR1A), mRNA.	110					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TCTTGCTGACGAAATTTTTGC	0.468000														125			32		0	0	0.000319135	0	0
TSTA3	7264	broad.mit.edu	37	8	144697003	144697003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:144697003G>A	uc003yza.2	-	3	380	c.344C>T	c.(343-345)aCc>aTc	p.T115I	TSTA3_uc003yzb.2_Missense_Mutation_p.T115I|TSTA3_uc011lko.1_Missense_Mutation_p.T115I	NM_003313	NP_003304	Q13630	FCL_HUMAN	Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA.	115					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	GAAGATACAGGTGGACAGGCA	0.647000														26			7		0	0	8.12818e-05	0	0
PCDH15	65217	broad.mit.edu	37	10	55582009	55582009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:55582009G>A	uc010qhy.1	-	34	5893	c.5498C>T	c.(5497-5499)cCt>cTt	p.P1833L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1828L|PCDH15_uc021pqz.1_Missense_Mutation_p.P1803L|PCDH15_uc010qhv.1_Missense_Mutation_p.P1823L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1786L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1757L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1828L|PCDH15_uc010qia.1_Missense_Mutation_p.P1806L|PCDH15_uc001jju.1_Missense_Mutation_p.P1826L|PCDH15_uc010qib.1_Missense_Mutation_p.P1803L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1826					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1826L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				tggagggcaaggaatagaagg	0.478000										HNSCC(58;0.16)				26			8		0	0	0.000274275	0	0
SEPP1	6414	broad.mit.edu	37	5	42804833	42804833	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:42804833G>A	uc011cps.2	-	4	647	c.549C>T	c.(547-549)ttC>ttT	p.F183F	SEPP1_uc011cpt.2_Silent_p.F153F|SEPP1_uc011cpu.2_Silent_p.F153F|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	153					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GGAAAGTTAGGAAGGAAAAAG	0.353000														44			10		0	0	6.40141e-05	0	0
PCDH15	65217	broad.mit.edu	37	10	55566674	55566674	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:55566674G>A	uc010qhq.2	-	34	5103	c.4708C>T	c.(4708-4710)Cga>Tga	p.R1570*	PCDH15_uc010qhr.2_Nonsense_Mutation_p.R1565*	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	425					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTCCCAGTCGAACAGGGGAA	0.453000										HNSCC(58;0.16)				70			17		0	0	0.000566183	0	0
COL12A1	1303	broad.mit.edu	37	6	75823424	75823424	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:75823424C>T	uc021zbv.1	-	48	7769	c.7734G>A	c.(7732-7734)acG>acA	p.T2578T	COL12A1_uc021zbw.1_Silent_p.T1414T|COL12A1_uc003phs.3_Silent_p.T2578T|COL12A1_uc003pht.3_Silent_p.T1414T	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2578	Nonhelical region (NC3).|TSP N-terminal.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATAATATAATCGTGTATGAAG	0.383000														27			13		0	0	0.000308642	0	0
ZNF667	63934	broad.mit.edu	37	19	56953852	56953852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:56953852G>A	uc002qne.3	-	6	1303	c.512C>T	c.(511-513)cCt>cTt	p.P171L	ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_Missense_Mutation_p.P171L|ZNF667_uc010etm.3_Missense_Mutation_p.P114L	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCATTCAAAAGGCTTCTCTCC	0.363000														50			11		0	0	0.000673444	0	0
UBC	7316	broad.mit.edu	37	12	125396503	125396503	+	Silent	SNP	G	A	A	rs6657		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:125396503G>A	uc001ugs.4	-	1	2273	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	UBC_uc001ugr.3_Non-coding_Transcript|UBC_uc001ugt.3_Silent_p.L453L|UBC_uc001ugu.1_Silent_p.L529L|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Silent_p.L605L	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	605	Ubiquitin-like 8.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L605L(2)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.537000														81			6		0	0	8.12818e-05	0	0
C3orf56	285311	broad.mit.edu	37	3	126915998	126915998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:126915998G>A	uc003eji.1	+	1	710	c.470G>A	c.(469-471)gGa>gAa	p.G157E						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCCCAGGTGGGATGCTGGACT	0.622000														42			13		0	0	0.000219431	0	0
ABCC8	6833	broad.mit.edu	37	11	17483187	17483187	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:17483187G>A	uc001mnc.3	-	4	891	c.765C>T	c.(763-765)atC>atT	p.I255I	ABCC8_uc010rcy.1_Silent_p.I255I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	255					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCTCATGGCGATGGGCAGCT	0.587000														241			70		0	0	0.000781405	0	0
EXPH5	23086	broad.mit.edu	37	11	108381986	108381986	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:108381986G>A	uc001pkk.3	-	5	4359	c.4248C>T	c.(4246-4248)tcC>tcT	p.S1416S	EXPH5_uc010rvz.2_Silent_p.S1260S|EXPH5_uc010rvy.2_Silent_p.S1228S	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1416					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGAATTAATGGATTGTTGAC	0.373000														84			25		0	0	0.000878237	0	0
GLT1D1	144423	broad.mit.edu	37	12	129442122	129442122	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:129442122G>A	uc010tbh.1	+	11	837	c.828G>A	c.(826-828)agG>agA	p.R276R	GLT1D1_uc001uhx.1_Silent_p.R191R|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	271					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TATTGGCCAGGAACATCCCCG	0.507000														27			6		0	0	0.000274275	0	0
IGH	0	broad.mit.edu	37	16	31973471	31973471	+	RNA	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:31973471C>T	uc002ect.3	+	0		c.63C>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H186.																		TGAGACTCTCCTGTGCAGCCT	0.577000														59			19		0	0	0.000375601	0	0
RIF1	55183	broad.mit.edu	37	2	152314361	152314361	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:152314361C>T	uc002txm.3	+	23	2900	c.2739C>T	c.(2737-2739)tcC>tcT	p.S913S	RIF1_uc002txn.3_Silent_p.S913S|RIF1_uc002txl.3_Silent_p.S913S|RIF1_uc002txo.3_Silent_p.S913S	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	913					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AACAACTCTCCCCACTATTAT	0.378000														64			12		0	0	6.40141e-05	0	0
LRRN1	57633	broad.mit.edu	37	3	3887559	3887559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:3887559G>A	uc003bpt.4	+	1	1995	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.E412K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	412	LRRCT.					integral to membrane		p.K411K(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCAGGTGAAGGAAGTTTTAAT	0.488000														46			13		0	0	0.00010058	0	0
OR56A1	120796	broad.mit.edu	37	11	6048593	6048593	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:6048593G>A	uc010qzw.2	-	0	379	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F114Y(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGGGGAGGAAACTGTTCA	0.522000														26			4		0	0	0.000602214	0	0
MIR519D	574480	broad.mit.edu	37	19	54216624	54216624	+	RNA	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:54216624G>A	uc021vaf.1	+	0		c.24G>A								Homo sapiens microRNA 519d (MIR519D), microRNA.																		CCCTCCAAAGGGAAGCGCTTT	0.428000														89			9		0	0	0.000442599	0	0
ANXA11	311	broad.mit.edu	37	10	81917398	81917398	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:81917398G>A	uc010qlx.1	-	12	1808	c.1758_splice	c.e12+1	p.S586_splice	ANXA11_uc001kbq.1_Splice_Site_p.S486_splice|ANXA11_uc001kbr.1_Splice_Site_p.S486_splice|ANXA11_uc001kbs.1_Splice_Site_p.S486_splice|ANXA11_uc001kbt.1_Splice_Site_p.S486_splice|ANXA11_uc010qly.1_Splice_Site_p.S453_splice|ANXA11_uc001kbu.1_Splice_Site_p.S486_splice	NM_145869	NP_665876	P50995	ANX11_HUMAN	Homo sapiens annexin A11 (ANXA11), transcript variant c, mRNA.	486					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	S100 alpha binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGCCCGTACCGAGATGTCGTG	0.577000														29			10		0	0	0.000151284	0	0
SEC23IP	11196	broad.mit.edu	37	10	121663757	121663757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:121663757C>T	uc001leu.2	+	3	1279	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	SEC23IP_uc010qtc.2_Missense_Mutation_p.P146S	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	357	Interaction with SEC23A.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TCGATTTATTCCCTATACTGA	0.423000														40			11		0	0	6.40141e-05	0	0
THBS4	7060	broad.mit.edu	37	5	79366551	79366551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:79366551G>A	uc021yaw.1	+	11	1729	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	513					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)		GATGCTGACGGAGATGGGATC	0.517000														56			24		0	0	0.000878237	0	0
BTBD7	55727	broad.mit.edu	37	14	93712229	93712229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:93712229G>A	uc001ybo.3	-	9	2851	c.2525C>T	c.(2524-2526)gCc>gTc	p.A842V	BTBD7_uc010aur.3_Missense_Mutation_p.A367V|BTBD7_uc010two.2_Missense_Mutation_p.A662V|BTBD7_uc001ybp.3_Missense_Mutation_p.A491V	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	842										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GGTGGTGGCGGCAGCAGCAGC	0.552000														15			6		0	0	3.59834e-05	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780296	93780296	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:93780296G>A	uc003dri.3	-	1	397	c.60C>T	c.(58-60)aaC>aaT	p.N20N	DHFRL1_uc003drj.3_Silent_p.N20N|DHFRL1_uc021xbk.1_Silent_p.N20N|NSUN3_uc003drk.3_5'Flank|NSUN3_uc003drl.1_5'Flank	NM_176815	NP_789785	Q86XF0	DYRL1_HUMAN	Homo sapiens dihydrofolate reductase-like 1 (DHFRL1), transcript variant 2, mRNA.	20	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		NADP binding|dihydrofolate reductase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						GCAGGTCCCCGTTCTTGCCGA	0.507000														56			20		0	0	0.000375601	0	0
DNAH5	1767	broad.mit.edu	37	5	13913969	13913969	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:13913969G>A	uc003jfd.2	-	10	1461	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	473	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F473F(2)		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)					GAAAAGTTTCGAATTTTCCAA	0.373000									Kartagener syndrome					71			18		0	0	0.00074312	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803137	185803137	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:185803137T>G	uc002uph.3	+	3	3608	c.3014T>G	c.(3013-3015)tTa>tGa	p.L1005*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1005						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						CAACCACCATTACCATTCAAA	0.433000														73			21		0	0	0.00047179	0	0
MEGF8	1954	broad.mit.edu	37	19	42848969	42848969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:42848969C>T	uc002otl.4	+	11	2716	c.2081C>T	c.(2080-2082)aCc>aTc	p.T694I	MEGF8_uc002otm.4_Missense_Mutation_p.T235I	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	763						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCGCCCAATACCTCCCAGCCT	0.587000														49			13		0	0	0.000219431	0	0
CENPI	2491	broad.mit.edu	37	X	100417919	100417919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:100417919C>T	uc004egx.3	+	20	2504	c.2234C>T	c.(2233-2235)cCc>cTc	p.P745L	CENPI_uc011mrg.2_Missense_Mutation_p.P731L	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	745					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TCTTCCATTCCCAGAGCAGAG	0.378000														33			26		0	0	0.000184323	0	0
OR5K4	403278	broad.mit.edu	37	3	98072934	98072934	+	Silent	SNP	C	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:98072934C>A	uc011bgv.2	+	0	237	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CTGTTACCCCCAAGATGTTAG	0.413000														221			10		0.000673444	0.00752205	0.000673444	1	0
COL4A1	1282	broad.mit.edu	37	13	110857736	110857736	+	Silent	SNP	G	A	A	rs138809869		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr13:110857736G>A	uc001vqw.4	-	16	1043	c.921C>T	c.(919-921)ccC>ccT	p.P307P		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	307	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGGTACCCGGGTTCACCAG	0.512000														43			14		0	0	0.000566183	0	0
ZNF257	113835	broad.mit.edu	37	19	22271151	22271151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:22271151C>T	uc010ecx.3	+	3	768	c.599C>T	c.(598-600)tCc>tTc	p.S200F	ZNF257_uc010ecy.3_Missense_Mutation_p.S168F	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAGAGAATTCCCACAAATGT	0.373000														59			12		0	0	0.000308642	0	0
UTP11L	51118	broad.mit.edu	37	1	38484757	38484757	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:38484757C>T	uc001ccn.4	+	4	460	c.369C>T	c.(367-369)ctC>ctT	p.L123L	UTP11L_uc009vvm.3_Silent_p.L54L|UTP11L_uc010oil.2_Non-coding_Transcript|UTP11L_uc001cco.4_Silent_p.L54L	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN	Homo sapiens UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) (UTP11L), mRNA.	123					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AATCAGAGCTCCATCTGCTGG	0.363000														41			14		0	0	0.000566183	0	0
LAMA2	3908	broad.mit.edu	37	6	129637294	129637294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:129637294G>A	uc021zfb.1	+	26	4141	c.4036G>A	c.(4036-4038)Gga>Aga	p.G1346R	LAMA2_uc003qbn.3_Missense_Mutation_p.G1346R|LAMA2_uc003qbo.3_Missense_Mutation_p.G1346R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1346	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGCTACTTATGGAAATTTCAT	0.338000														65			12		0	0	6.40141e-05	0	0
THRB	7068	broad.mit.edu	37	3	24185081	24185081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:24185081C>T	uc003ccz.4	-	8	1169	c.649G>A	c.(649-651)Gag>Aag	p.E217K	THRB_uc010hfe.3_Missense_Mutation_p.E217K|THRB_uc003ccy.4_Missense_Mutation_p.E217K|THRB_uc003ccx.4_Missense_Mutation_p.E217K	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	217					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TCCCATTCCTCGTCTGTGGGC	0.567000														63			12		0	0	0.000151284	0	0
UBXN10	127733	broad.mit.edu	37	1	20517071	20517071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:20517071C>T	uc001bdb.3	+	1	101	c.17C>T	c.(16-18)cCt>cTt	p.P6L	UBXN10_uc021oia.1_Missense_Mutation_p.P6L	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	Homo sapiens UBX domain protein 10 (UBXN10), mRNA.	6										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						ACAGAAGCCCCTGTGAATATA	0.493000														76			16		0	0	0.000175454	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389789	150389789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:150389789G>A	uc003who.3	+	2	503	c.415G>A	c.(415-417)Gga>Aga	p.G139R		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	139						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGATGCCATGGGACACACAAT	0.537000														25			10		0	0	0.000673444	0	0
BAI1	575	broad.mit.edu	37	8	143623570	143623570	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:143623570C>G	uc003ywm.3	+	26	4158	c.3975C>G	c.(3973-3975)atC>atG	p.I1325M		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1325					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACGGGGACATCTTCAAGAAGC	0.672000														47			16		0	0	0.000175454	0	0
PTPN3	5774	broad.mit.edu	37	9	112172549	112172549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:112172549C>T	uc004bed.2	-	14	1572	c.1460G>A	c.(1459-1461)gGg>gAg	p.G487E	PTPN3_uc004beb.2_Missense_Mutation_p.G356E|PTPN3_uc004bec.2_Missense_Mutation_p.G311E|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.G442E|PTPN3_uc011lwh.1_Missense_Mutation_p.G333E|PTPN3_uc011lwd.1_5'UTR|PTPN3_uc011lwe.1_Missense_Mutation_p.G200E|PTPN3_uc011lwf.1_Missense_Mutation_p.G155E	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	487					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGTGGAGCCCCCTTTGGTCAC	0.597000														67			15		0	0	0.000132079	0	0
KIF15	56992	broad.mit.edu	37	3	44893366	44893366	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:44893366G>A	uc003cnx.4	+	32	4043	c.3894G>A	c.(3892-3894)gaG>gaA	p.E1298E	KIF15_uc010hiq.3_Silent_p.E1201E|KIF15_uc010hir.3_Silent_p.E346E	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	1298					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AAACTTTGGAGTCTAAAGCAT	0.418000														73			22		0	0	0.000175454	0	0
TPO	7173	broad.mit.edu	37	2	1459875	1459875	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:1459875C>G	uc002qwr.3	+	6	726	c.640C>G	c.(640-642)Caa>Gaa	p.Q214E	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.Q214E|TPO_uc002qwx.3_Missense_Mutation_p.Q214E|TPO_uc002qwu.3_Missense_Mutation_p.Q214E|TPO_uc010yio.2_Missense_Mutation_p.Q214E|TPO_uc010yip.2_Missense_Mutation_p.Q214E	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	214					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACATGTCATTCAAGTTTCAAA	0.507000														17			7		0	0	0.000673444	0	0
DNM3	26052	broad.mit.edu	37	1	171958194	171958194	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:171958194G>A	uc001gie.3	+	3	671	c.495G>A	c.(493-495)acG>acA	p.T165T	DNM3_uc001gid.4_Silent_p.T165T|DNM3_uc009wwb.2_Silent_p.T165T|DNM3_uc001gif.3_Silent_p.T165T	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	165					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGTTCATCACGAGGGAGAACT	0.433000														13			5		0	0	0.000602214	0	0
PBX1	5087	broad.mit.edu	37	1	164761831	164761831	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:164761831G>A	uc001gct.3	+	2	829	c.366G>A	c.(364-366)aaG>aaA	p.K122K	PBX1_uc010pku.2_Silent_p.K122K|PBX1_uc001gcs.3_Silent_p.K122K|PBX1_uc010pkv.2_Silent_p.K39K|PBX1_uc010pkw.1_Silent_p.K12K	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	122					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGCCTGAGAAGGGCGGAGGGT	0.632000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									29			10		0	0	6.40141e-05	0	0
VWC2L	402117	broad.mit.edu	37	2	215279114	215279114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:215279114G>A	uc002vet.2	+	1	327	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	VWC2L_uc010zjl.1_Missense_Mutation_p.R66Q	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	66	VWFC 1.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTGGGAGAACGATTTTTCCCT	0.458000														15			5		0	0	3.59834e-05	0	0
LOXL2	4017	broad.mit.edu	37	8	23225580	23225580	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:23225580G>A	uc003xdh.1	-	1	624	c.285C>T	c.(283-285)gtC>gtT	p.V95V		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	95	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCCGGCAGACGACGTGGGCAG	0.622000														26			5		0	0	8.12818e-05	0	0
OR10H1	26539	broad.mit.edu	37	19	15918195	15918195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:15918195G>A	uc002nbq.2	-	0	742	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L217L(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GAAGGCATAGGAGAGGAGGAT	0.577000														41			7		0	0	0.000442599	0	0
ACOX3	8310	broad.mit.edu	37	4	8383294	8383294	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:8383294G>A	uc010idk.3	-	13	1723	c.1578C>T	c.(1576-1578)ctC>ctT	p.L526L	ACOX3_uc003glc.4_Silent_p.L526L|ACOX3_uc003gld.4_Silent_p.L526L	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	526					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AAGTCTCTCGGAGCAGGTAGC	0.408000														68			19		0	0	0.000132079	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138177	126138177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:126138177C>T	uc001uhe.1	+	8	2166	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	TMEM132B_uc001uhf.1_Missense_Mutation_p.P232S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	720						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CATTTACGATCCTAAGGATTA	0.403000														112			27		0	0	0.000720815	0	0
NKAIN2	154215	broad.mit.edu	37	6	124604171	124604171	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:124604171A>C	uc003pzo.3	+	1	352	c.75A>C	c.(73-75)caA>caC	p.Q25H	NKAIN2_uc003pzn.1_Missense_Mutation_p.Q25H|NKAIN2_uc010keq.3_Missense_Mutation_p.Q25H|NKAIN2_uc003pzp.3_Missense_Mutation_p.Q24H|NKAIN2_uc010ker.3_5'UTR|NKAIN2_uc010kep.1_Non-coding_Transcript	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	25						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TGGAGAGGCAAATATTTGACT	0.373000														132			19		0	0	0.000175454	0	0
NXF3	56000	broad.mit.edu	37	X	102333532	102333532	+	Silent	SNP	G	A	A	rs148623328	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:102333532G>A	uc004eju.3	-	16	1478	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	NXF3_uc010noi.1_Missense_Mutation_p.R316C	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	469	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGGTGAAGGCGAGAACAGAAC	0.542000														40			22		0	0	0.000147802	0	0
ABCB11	8647	broad.mit.edu	37	2	169780144	169780144	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:169780144G>A	uc002ueo.1	-	27	4080	c.3954C>T	c.(3952-3954)tcC>tcT	p.S1318S	ABCB11_uc010zda.1_Silent_p.S736S|ABCB11_uc010zdb.1_Silent_p.S794S	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1318					bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.G1317A(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AACTGATGGGGGATCCAGTGG	0.478000														35			7		0	0	0.000442599	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399065	22399065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:22399065G>A	uc001mqk.3	+	11	1941	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	510					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AGACCCGGAGGAAACAAGTGA	0.408000														30			7		0	0	0.000157383	0	0
OR51I2	390064	broad.mit.edu	37	11	5475289	5475289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5475289G>A	uc010qzf.2	+	0	652	c.571G>A	c.(571-573)Gat>Aat	p.D191N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTGTGCTGATATCAGTAT	0.458000														80			22		0	0	0.000375601	0	0
RXFP2	122042	broad.mit.edu	37	13	32366925	32366925	+	Missense_Mutation	SNP	C	T	T	rs150335466		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr13:32366925C>T	uc001utt.3	+	15	1557	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	RXFP2_uc010aba.3_Missense_Mutation_p.R472C	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	496						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CGTGCAGTGCCGCCTCATGGG	0.498000														51			9		0	0	0.000274275	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499220	34499220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:34499220C>T	uc002hky.2	-	6	641	c.491G>A	c.(490-492)gGa>gAa	p.G164E	DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank	NM_001001417	NP_001001417	A6NDS4	TBC3B_HUMAN	Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA.	164	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.G164*(1)		endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTACTTGGTTCCGTATCGATC	0.572000														274			29		0	0	0.000781405	0	0
abParts	0	broad.mit.edu	37	22	22735540	22735540	+	RNA	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:22735540C>T	uc021wml.1	+	51		c.5975C>T								Parts of antibodies, mostly variable regions.																		ACCAGCAGCTCCCAGGAACGG	0.577000														86			15		0	0	0.000566183	0	0
GUF1	60558	broad.mit.edu	37	4	44691384	44691384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:44691384C>T	uc003gww.4	+	9	1367	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I	GUF1_uc010ifz.1_Non-coding_Transcript	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	Homo sapiens GUF1 GTPase homolog (S. cerevisiae) (GUF1), mRNA.	387					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TCCAGTGTGACCGTTCATCGG	0.393000														50			14		0	0	0.000308642	0	0
COL19A1	1310	broad.mit.edu	37	6	70856589	70856589	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:70856589G>A	uc003pfc.1	+	25	1926	c.1809G>A	c.(1807-1809)ggG>ggA	p.G603G	COL19A1_uc010kam.2_Silent_p.G499G	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	603	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTCCACGTGGGCCAAAGGTAT	0.323000														43			10		0	0	6.40141e-05	0	0
VN1R4	317703	broad.mit.edu	37	19	53770583	53770583	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:53770583C>T	uc010ydu.2	-	0	336	c.336G>A	c.(334-336)agG>agA	p.R112R		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	112					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.R112R(2)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACCTGGATTTCCTGGAGCTGA	0.498000										HNSCC(26;0.072)				10			4		0	0	0.00024832	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061495	13061495	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:13061495C>T	uc001rba.3	+	1	962	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	104						Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTGGGATCCTCTTTTCCATCT	0.587000														107			21		0	0	0.000375601	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224889	26224890	+	Missense_Mutation	DNP	GG	AA	AA	rs138591487		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:26224889_26224890GG>AA	uc003sxq.3	+	3	1843_1844	c.1571_1572GG>AA	c.(1570-1572)agg>aAA	p.R524K		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	524					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CAGAAGATAAGGAGTAGATACC	0.431000														62			11		0	0	6.4e-05	0	0
RBM42	79171	broad.mit.edu	37	19	36124009	36124009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:36124009C>T	uc002oan.3	+	5	615	c.539C>T	c.(538-540)cCc>cTc	p.P180L	RBM42_uc002oap.3_Missense_Mutation_p.P150L|RBM42_uc002oaq.3_Missense_Mutation_p.P151L	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	180	Pro-rich.					cytoplasm|nucleus	RNA binding|nucleotide binding	p.G179S(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGCCGGCCCCCGCCCTATG	0.687000														71			23		0	0	0.000878237	0	0
OR12D2	26529	broad.mit.edu	37	6	29364640	29364640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:29364640C>T	uc003nmf.4	+	0	225	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						AGACTCCATTCCCTTATGTAT	0.453000														46			50		0	0	0.000781405	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696505	17696505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:17696505C>T	uc002rcl.1	-	0	3202	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	RAD51AP2_uc010exn.1_Missense_Mutation_p.E1051K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1060										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAGGAACTTCCTGTTCTCCA	0.348000														26			10		0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179457984	179457984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:179457984C>T	uc021vsy.1	-	247	51472	c.51247G>A	c.(51247-51249)Gaa>Aaa	p.E17083K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E10778K|TTN_uc021vta.1_Missense_Mutation_p.E10711K|TTN_uc021vtb.1_Missense_Mutation_p.E10586K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18010	Ig-like 102.						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)			ACCCGGAATTCATACTGACAT	0.388000														97			36		0	0	0.000814825	0	0
RYR1	6261	broad.mit.edu	37	19	39003109	39003109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:39003109G>A	uc002oit.3	+	62	9588	c.9458G>A	c.(9457-9459)gGa>gAa	p.G3153E	RYR1_uc002oiu.3_Missense_Mutation_p.G3153E|RYR1_uc002oiv.1_Missense_Mutation_p.G73E|RYR1_uc010xuf.1_Missense_Mutation_p.G73E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3153					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CACCAGTTCGGAGATGACGTC	0.637000														36			12		0	0	0.000219431	0	0
AMY2B	280	broad.mit.edu	37	1	104116981	104116981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:104116981C>T	uc010ouo.2	+	16	2548	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	AMY2B_uc001duq.3_Missense_Mutation_p.R282C|AMY2B_uc001dur.3_Missense_Mutation_p.R282C|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	282					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.R282S(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CACAGTTATTCGCAAGTGGAA	0.398000														271			39		0	0	0.000680045	0	0
TBCEL	219899	broad.mit.edu	37	11	120925773	120925773	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:120925773C>T	uc001pxo.3	+	4	673	c.468C>T	c.(466-468)ctC>ctT	p.L156L	TBCEL_uc009zay.3_Silent_p.L156L|TBCEL_uc001pxp.3_Silent_p.L12L|TBCEL_uc001pxq.3_Intron	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	156						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TGGAGGAGCTCTTCCTGTGCC	0.333000														29			4		0	0	0.000602214	0	0
CD48	962	broad.mit.edu	37	1	160654704	160654704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:160654704C>T	uc001fwo.1	-	1	390	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	CD48_uc001fwn.3_Missense_Mutation_p.E120K|CD48_uc001fwp.3_Missense_Mutation_p.E120K	NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	120	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCTTCCATTCTTGCTCATTC	0.517000														119			25		0	0	0.000339439	0	0
TACC1	6867	broad.mit.edu	37	8	38677795	38677795	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:38677795C>T	uc010lwp.3	+	2	1412	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	TACC1_uc011lby.1_Silent_p.L150L|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Silent_p.L300L|TACC1_uc003xlz.3_Silent_p.L150L|TACC1_uc003xmc.4_Silent_p.L150L|TACC1_uc011lbz.2_Silent_p.L361L|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Silent_p.L345L|TACC1_uc011lcb.2_Silent_p.L150L|TACC1_uc011lcc.2_Silent_p.L150L|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_Silent_p.L150L|TACC1_uc010lwq.3_Silent_p.L150L	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	345	Interaction with YEATS4.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGGCAGGAAACTGGGTAGCAC	0.507000														67			23		0	0	0.000295444	0	0
WDR13	64743	broad.mit.edu	37	X	48457988	48457988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:48457988G>A	uc004dkj.2	+	3	911	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	WDR13_uc004dkk.2_Missense_Mutation_p.V44M|WDR13_uc004dkl.4_Missense_Mutation_p.V44M|WDR13_uc011mme.2_Missense_Mutation_p.V14M	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN	Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.	136						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CCCTGGCAGCGTGGTGCCCAC	0.617000														12			12		0	0	0.000422831	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		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.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(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)	TCGAGATTTCACTGTAGCTAGA	0.366000	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)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					43			16		0	0	6.4e-05	0	0
RERE	473	broad.mit.edu	37	1	8418778	8418778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:8418778G>A	uc001ape.3	-	20	4627	c.3817C>T	c.(3817-3819)Ccc>Tcc	p.P1273S	RERE_uc001apf.3_Missense_Mutation_p.P1273S|RERE_uc001apd.3_Missense_Mutation_p.P719S	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1273					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATGTAGAAGGGGTGGTTGCGG	0.672000														19			6		0	0	0.000157383	0	0
USP53	54532	broad.mit.edu	37	4	120190984	120190984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:120190984G>A	uc003ics.4	+	13	2493	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	USP53_uc003icr.4_Missense_Mutation_p.R476Q|USP53_uc003icu.4_Missense_Mutation_p.R99Q|USP53_uc003ict.3_Missense_Mutation_p.R99Q	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	476					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GATTTAGGACGACATAGAGGT	0.284000														154			40		0	0	0.000781405	0	0
TBCK	93627	broad.mit.edu	37	4	107114875	107114875	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:107114875C>T	uc010ilv.2	-	21	2315	c.1950G>A	c.(1948-1950)ggG>ggA	p.G650G	TBCK_uc003hyb.2_Silent_p.G393G|TBCK_uc003hye.2_Silent_p.G611G|TBCK_uc003hyc.2_Silent_p.G587G|TBCK_uc003hyd.2_Silent_p.G478G|TBCK_uc003hyf.2_Silent_p.G650G	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	650	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.G650W(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AAGAGGAATTCCCAAGTAGTA	0.368000														21			14		0	0	0.000308642	0	0
OR52N4	390072	broad.mit.edu	37	11	5776059	5776059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5776059C>T	uc001mbu.3	+	0	137	c.89C>T	c.(88-90)tCc>tTc	p.S30F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTCTGGATTTCCTTCCCATTC	0.438000														56			10		0	0	0.000673444	0	0
ODZ3	55714	broad.mit.edu	37	4	183650198	183650198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:183650198G>A	uc003ivd.1	+	12	2524	c.2449G>A	c.(2449-2451)Gat>Aat	p.D817N	ODZ3_uc003ive.1_Missense_Mutation_p.D223N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	817					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)		GGGACTGCCGGATCCTCAGGA	0.483000														29			10		0	0	0.000442599	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203846876	203846876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:203846876C>T	uc002uzo.2	+	14	2051	c.1771C>T	c.(1771-1773)Cct>Tct	p.P591S	ALS2CR8_uc010zia.1_Missense_Mutation_p.P515S|ALS2CR8_uc010zib.1_Missense_Mutation_p.P515S|ALS2CR8_uc010zic.1_Missense_Mutation_p.P503S|ALS2CR8_uc002uzp.2_Missense_Mutation_p.P591S	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	591										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						GTCCTCTAGTCCTTCAGGACT	0.408000														351			113		0	0	0.000781405	0	0
GLI2	2736	broad.mit.edu	37	2	121748014	121748014	+	Silent	SNP	C	T	T	rs139840265	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:121748014C>T	uc010flp.3	+	12	4554	c.4524C>T	c.(4522-4524)ccC>ccT	p.P1508P	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Silent_p.P1180P|GLI2_uc002tmu.4_Silent_p.P1163P	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1508					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGGAGGCCCCCCAGATTGACT	0.617000														68			16		0	0	9.7654e-05	0	0
TFDP2	7029	broad.mit.edu	37	3	141671371	141671371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:141671371G>A	uc003eun.4	-	12	1779	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	TFDP2_uc003euk.4_Missense_Mutation_p.S414F|TFDP2_uc003eul.4_Missense_Mutation_p.S382F|TFDP2_uc011bnf.2_Missense_Mutation_p.S345F|TFDP2_uc011bng.2_Missense_Mutation_p.S306F|TFDP2_uc003eum.4_Missense_Mutation_p.S382F	NM_001178139	NP_001171613	Q14188	TFDP2_HUMAN	Homo sapiens transcription factor Dp-2 (E2F dimerization partner 2) (TFDP2), transcript variant 3, mRNA.	442	Asp/Glu-rich (acidic; NCB domain).				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						TGGGGAGGAGGAATCCTCCTC	0.483000														97			20		0	0	0.00047179	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049520	36049520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:36049520C>T	uc003jjz.2	-	3	446	c.314G>A	c.(313-315)gGa>gAa	p.G105E	UGT3A2_uc011cos.2_Missense_Mutation_p.G71E|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	105						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAAATTTTCCTCTGTAAGA	0.284000														51			10		0	0	0.000673444	0	0
UBE2R2	54926	broad.mit.edu	37	9	33912014	33912014	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:33912014C>G	uc003ztm.3	+	3	989	c.415C>G	c.(415-417)Cca>Gca	p.P139A		NM_017811	NP_060281	Q712K3	UB2R2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2R 2 (UBE2R2), mRNA.	139					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		CACCTTCTCCCCAGCCAATGT	0.358000														77			4		0	0	3.59834e-05	0	0
OR1L1	26737	broad.mit.edu	37	9	125424008	125424008	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:125424008A>C	uc022bmz.1	+	0	14	c.14A>C	c.(13-15)aAc>aCc	p.N5T		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GGAAGAAATAACCTAACAAGA	0.418000														49			6		0	0	0.000157383	0	0
OR7D2	162998	broad.mit.edu	37	19	9297154	9297154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:9297154G>A	uc002mkz.1	+	0	885	c.697G>A	c.(697-699)Gga>Aga	p.G233R		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	233					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTCATCTGGGGGAAAACAAAA	0.468000														33			12		0	0	6.40141e-05	0	0
GRID1	2894	broad.mit.edu	37	10	87487683	87487683	+	Missense_Mutation	SNP	G	T	T	rs145118691		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:87487683G>T	uc001kdl.1	-	9	1563	c.1462C>A	c.(1462-1464)Cct>Act	p.P488T	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.P59T	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	488						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGCCATCAGGGGCTTGGTAA	0.547000										Multiple Myeloma(13;0.14)				88			8		0.000274275	0.00308337	0.000274275	1	0
CSMD3	114788	broad.mit.edu	37	8	113323316	113323316	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:113323316G>A	uc003ynu.3	-	49	7935	c.7776C>T	c.(7774-7776)gtC>gtT	p.V2592V	CSMD3_uc003yns.3_Silent_p.V1794V|CSMD3_uc003ynt.3_Silent_p.V2552V|CSMD3_uc011lhx.2_Silent_p.V2488V|CSMD3_uc003ynw.1_Silent_p.V303V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2592	Sushi 14.					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						AGGCCCAACGGACCACACTGT	0.463000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				47			16		0	0	0.000132079	0	0
DMGDH	29958	broad.mit.edu	37	5	78338268	78338268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:78338268C>T	uc003kfs.3	-	6	1037	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	DMGDH_uc011cte.1_Missense_Mutation_p.R194Q|DMGDH_uc011ctf.1_Missense_Mutation_p.R143Q|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	344					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTCCATGATTCGATCTAGATC	0.428000														55			22		0	0	0.000184323	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066521	18066521	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:18066521G>A	uc003stz.3	-	0	966	c.885C>T	c.(883-885)atC>atT	p.I295I		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	295					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CTTCTGCAAGGATCATGGAGA	0.398000														196			47		0	0	0.000781405	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3392122	3392122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:3392122C>T	uc002qxm.1	+	1	934	c.728C>T	c.(727-729)cCg>cTg	p.P243L	TRAPPC12_uc002qxn.1_Missense_Mutation_p.P243L|TRAPPC12_uc010ewm.1_Missense_Mutation_p.P243L	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	243							binding										gcgggctccccggcccccgcc	0.731000														6			6		0	0	0.000157383	0	0
LGALS9	3965	broad.mit.edu	37	17	25967705	25967705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:25967705G>A	uc002gzp.3	+	2	357	c.239G>A	c.(238-240)gGa>gAa	p.G80E	LGALS9_uc002gzq.3_Missense_Mutation_p.G80E|LGALS9_uc002gzr.3_Missense_Mutation_p.G23E|LGALS9_uc010waa.2_Missense_Mutation_p.G23E	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	80	Galectin 1.			NGS -> KGR (in Ref. 6; CAB93851).	positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AGGCAGAACGGAAGCTGGGGG	0.542000														53			20		0	0	0.000175454	0	0
MC4R	4160	broad.mit.edu	37	18	58038851	58038851	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr18:58038851C>T	uc002lie.1	-	0	1151	c.732G>A	c.(730-732)gcG>gcA	p.A244A		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	244					G-protein signaling, coupled to cAMP nucleotide second messenger|feeding behavior|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TCAAGGTAATCGCTCCCTTCA	0.498000														32			11		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179500209	179500209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:179500209C>T	uc021vsy.1	-	175	34363	c.34138G>A	c.(34138-34140)Gaa>Aaa	p.E11380K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5075K|TTN_uc021vta.1_Missense_Mutation_p.E5008K|TTN_uc021vtb.1_Missense_Mutation_p.E4883K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12307	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCAATTTCCACTGCATAC	0.348000														8			4		0	0	0.00024832	0	0
ERBB3	2065	broad.mit.edu	37	12	56487288	56487288	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:56487288G>A	uc001sjh.3	+	11	1710	c.1434G>A	c.(1432-1434)acG>acA	p.T478T	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Silent_p.T419T|ERBB3_uc009zok.3_5'Flank|ERBB3_uc001sjk.3_5'Flank|ERBB3_uc001sjj.1_Silent_p.T46T	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	478					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGGGGCCTACGGAAGAGCGAC	0.552000														32			8		0	0	0.000673444	0	0
PDE3B	5140	broad.mit.edu	37	11	14665713	14665713	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:14665713A>G	uc001mln.3	+	0	445	c.92A>G	c.(91-93)tAc>tGc	p.Y31C	PDE3B_uc001mlm.2_Missense_Mutation_p.Y31C|PDE3B_uc010rcr.2_Missense_Mutation_p.Y31C|PSMA1_uc001mll.3_5'Flank	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	31					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						AGGAACGGCTACGTGAAGAGC	0.711000														7			3		0	0	6.4e-05	0	0
OR4C13	283092	broad.mit.edu	37	11	49974085	49974085	+	Missense_Mutation	SNP	G	A	A	rs141161603		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:49974085G>A	uc010rhz.2	+	0	143	c.111G>A	c.(109-111)atG>atA	p.M37I		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M37I(2)|p.M37V(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCAACGCCATGATAGGAAATG	0.418000														124			28		0	0	0.000227799	0	0
MYO3A	53904	broad.mit.edu	37	10	26500832	26500832	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:26500832C>T	uc001isn.2	+	34	5151	c.4791C>T	c.(4789-4791)taC>taT	p.Y1597Y	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Nonsense_Mutation_p.R613*	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1597					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CCAACCCCTACGACTTCAGGA	0.652000														24			8		0	0	0.000157383	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991393	52991393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:52991393G>A	uc001cty.2	-	1	813	c.560C>T	c.(559-561)tCc>tTc	p.S187F	ZCCHC11_uc001ctx.2_Missense_Mutation_p.S187F|ZCCHC11_uc009vze.1_Missense_Mutation_p.S187F|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.3_Missense_Mutation_p.S187F|ZCCHC11_uc001cuc.2_Non-coding_Transcript|ZCCHC11_uc001cud.3_Missense_Mutation_p.S187F	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	187					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGAAGTAAAGGAGCTTGGAAT	0.413000														141			27		0	0	0.000586117	0	0
TRPM5	29850	broad.mit.edu	37	11	2443413	2443413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:2443413C>T	uc010qxl.2	-	1	265	c.256G>A	c.(256-258)Gat>Aat	p.D86N	TRPM5_uc001lwm.4_Missense_Mutation_p.D86N|TRPM5_uc009ydn.3_Missense_Mutation_p.D86N	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	86						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)		CGCAGCACATCCCGCAGCCAG	0.687000														55			11		0	0	6.40141e-05	0	0
BOLL	66037	broad.mit.edu	37	2	198646462	198646462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:198646462C>T	uc002uuu.1	-	1	510	c.131G>A	c.(130-132)gGa>gAa	p.G44E	BOLL_uc002uur.2_Missense_Mutation_p.G44E|BOLL_uc002uus.2_Missense_Mutation_p.G38E|BOLL_uc002uut.2_Missense_Mutation_p.G50E|BOLL_uc010zha.1_5'UTR	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	38	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	RNA binding|nucleotide binding|protein binding|translation activator activity	p.G38A(1)|p.G50A(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ATCAATTCCTCCTACAAAGAT	0.358000														93			26		0	0	0.000147802	0	0
FLG	2312	broad.mit.edu	37	1	152284699	152284699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:152284699C>T	uc001ezu.1	-	2	2699	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	888	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G888E(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTCTGGATCCTGACTGCCC	0.562000									Ichthyosis					178			53		0	0	0.000781405	0	0
AHCY	191	broad.mit.edu	37	20	32883331	32883331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:32883331G>A	uc002xai.3	-	1	228	c.89C>T	c.(88-90)cCg>cTg	p.P30L	AHCY_uc002xaj.3_Missense_Mutation_p.P2L|AHCY_uc010get.2_Missense_Mutation_p.P30L	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	30					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CATCAGGCCCGGCATCTCGTT	0.662000														10			5		0	0	8.12818e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13762983	13762984	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:13762983_13762984CT>TC	uc003jfd.2	-	59	10170_10171	c.10128_10129AG>GA	c.(10126-10131)gaagag>gaGAag	p.E3377K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3377	Stalk (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)					TCTATCACCTCTTCATTGATTG	0.371000									Kartagener syndrome					47			7		0	0	6.4e-05	0	0
DOCK3	1795	broad.mit.edu	37	3	51198126	51198126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:51198126G>A	uc011bds.2	+	11	1053	c.1030G>A	c.(1030-1032)Gtt>Att	p.V344I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	344						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGTTCTTAAGGTTTACACGTG	0.443000														24			6		0	0	3.59834e-05	0	0
MMP26	56547	broad.mit.edu	37	11	5012687	5012687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5012687C>T	uc001lzv.3	+	3	574	c.556C>T	c.(556-558)Cat>Tat	p.H186Y		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	186					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGAGTTGTCCATTTTGACAA	0.483000														105			17		0	0	0.000422831	0	0
TMIGD2	126259	broad.mit.edu	37	19	4294776	4294776	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:4294776G>A	uc002lzx.2	-	2	490	c.444C>T	c.(442-444)ttC>ttT	p.F148F	TMIGD2_uc021umz.1_Missense_Mutation_p.S32F|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Silent_p.F148F	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	148						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCACCTGGGAAGCTTGCGA	0.592000														19			6		0	0	3.59834e-05	0	0
C19orf63	284361	broad.mit.edu	37	19	50983459	50983459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:50983459C>T	uc002psl.3	+	3	455	c.389C>T	c.(388-390)tCc>tTc	p.S130F	C19orf63_uc021uyd.1_Non-coding_Transcript|C19orf63_uc002psk.3_Missense_Mutation_p.S130F	NM_206538	NP_996261	Q5UCC4	INM02_HUMAN	Homo sapiens chromosome 19 open reading frame 63 (C19orf63), transcript variant HSM1, mRNA.	130						extracellular region|integral to membrane				breast(1)|lung(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252)		TATGTCTCCTCCTTTGTCCCT	0.642000														15			6		0	0	0.000157383	0	0
TFDP3	51270	broad.mit.edu	37	X	132351834	132351834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:132351834C>T	uc004exb.1	-	0	543	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	152						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TAAGCTGACTCGTTTGGTGAG	0.527000														24			11		0	0	0.000219431	0	0
CD163	9332	broad.mit.edu	37	12	7651733	7651733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:7651733C>T	uc001qsz.3	-	3	637	c.509G>A	c.(508-510)gGa>gAa	p.G170E	CD163_uc001qta.3_Missense_Mutation_p.G170E|CD163_uc009zfw.2_Missense_Mutation_p.G170E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	170	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTCTATTCTTCCAGAACACAT	0.413000														212			47		0	0	0.000781405	0	0
MMRN2	79812	broad.mit.edu	37	10	88696568	88696569	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:88696568_88696569GG>TT	uc001kea.3	-	6	2908_2909	c.2781_2782CC>AA	c.(2779-2784)acccag>acAAag	p.Q928K	MMRN2_uc010qmn.2_Missense_Mutation_p.Q571K	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	928	C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						ATTGATCCCTGGGTTAACTCAA	0.535000														151			8		0	0	6.4e-05	0	0
CD86	942	broad.mit.edu	37	3	121822654	121822654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:121822654G>A	uc003eet.3	+	2	488	c.360G>A	c.(358-360)atG>atA	p.M120I	CD86_uc011bjo.2_Missense_Mutation_p.M38I|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.M114I|CD86_uc021xcz.1_Missense_Mutation_p.M114I	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	120	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CCACAGGAATGATTCGCATCC	0.438000														41			14		0	0	0.000308642	0	0
IL31RA	133396	broad.mit.edu	37	5	55147444	55147444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:55147444G>A	uc003jql.3	+	0	238	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	IL31RA_uc003jqk.3_Missense_Mutation_p.E16K|IL31RA_uc011cqj.2_5'UTR|IL31RA_uc003jqm.3_5'UTR|IL31RA_uc003jqn.3_Missense_Mutation_p.E16K|IL31RA_uc010iwa.1_5'Flank|IL31RA_uc021xyq.1_5'Flank|IL31RA_uc003jqo.3_5'Flank	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	0					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				atgtgtctgtgaatgtccgca	0.433000														127			35		0	0	0.000191422	0	0
MYH14	79784	broad.mit.edu	37	19	50764788	50764788	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:50764788C>A	uc010enu.1	+	20	2528	c.2481C>A	c.(2479-2481)ttC>ttA	p.F827L	MYH14_uc002prq.1_Missense_Mutation_p.F794L|MYH14_uc002prr.1_Missense_Mutation_p.F786L	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	786	IQ.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCAAGATCTTCTTCCGGGCTG	0.637000														25			9		1.58986e-06	1.81873e-05	0.000673444	1	0
CLDN11	5010	broad.mit.edu	37	3	170141080	170141080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:170141080G>A	uc003fgx.3	+	1	558	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	CLDN11_uc011bpt.1_Missense_Mutation_p.R119Q|CLDN11_uc003fgy.3_Missense_Mutation_p.R35Q	NM_005602	NP_001171985	O75508	CLD11_HUMAN	Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA.	119					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAGTACAGGCGGGCCCAGCTG	0.567000														40			17		0	0	0.00074312	0	0
SH3BP1	23616	broad.mit.edu	37	22	38046168	38046168	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:38046168C>G	uc011anl.1	+	15	2162	c.1424C>G	c.(1423-1425)cCc>cGc	p.P475R	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc003ath.1_Silent_p.A442A|SH3BP1_uc003ati.3_Silent_p.A442A|SH3BP1_uc003atj.1_Silent_p.A378A|SH3BP1_uc003atk.1_Silent_p.A356A|AK097791_uc003atl.1_Intron			Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	588					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GGGACCAGGCCCAGCTGGATG	0.607000														21			6		0	0	8.12818e-05	0	0
APC	324	broad.mit.edu	37	5	112176863	112176863	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:112176863C>T	uc003kpz.4	+	16	5765	c.5572C>T	c.(5572-5574)Cga>Tga	p.R1858*	APC_uc011cvt.2_Nonsense_Mutation_p.R1840*|APC_uc003kpy.4_Nonsense_Mutation_p.R1858*|APC_uc010jbz.3_Nonsense_Mutation_p.R1575*|APC_uc010jca.3_Nonsense_Mutation_p.R1158*	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1858	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1857*(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTGTTTTTCACGAAATGATTC	0.358000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				26			10		0	0	0.000442599	0	0
RIT2	6014	broad.mit.edu	37	18	40695429	40695429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr18:40695429C>T	uc002lav.3	-	0	229	c.56G>A	c.(55-57)aGa>aAa	p.R19K	RIT2_uc010dnf.3_Missense_Mutation_p.R19K	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	19					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding	p.R19I(2)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTGTACTCTCTGGACCCGCC	0.542000														68			12		0	0	0.000308642	0	0
ANK1	286	broad.mit.edu	37	8	41655042	41655042	+	Silent	SNP	C	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:41655042C>A	uc003xok.3	-	0	99	c.15G>T	c.(13-15)gtG>gtT	p.V5V	ANK1_uc003xoi.3_Silent_p.V5V|ANK1_uc003xoj.3_Silent_p.V5V|ANK1_uc003xol.3_Silent_p.V5V|ANK1_uc003xom.3_Intron	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	5	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGCGGAAGCCCACAGAATAGG	0.692000														20			4		8.12818e-05	0.000917727	8.12818e-05	1	0
LEKR1	389170	broad.mit.edu	37	3	156763400	156763401	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:156763400_156763401CC>TT	uc021xgh.1	+	12	2054_2055	c.1940_1941CC>TT	c.(1939-1941)acc>aTT	p.T647I	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTTTCCCAACCTCAGATAAGC	0.520000														42			12		0	0	6.4e-05	0	0
HSF1	3297	broad.mit.edu	37	8	145537654	145537654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:145537654G>A	uc003zbt.4	+	11	1491	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	441	Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			ACAGATCCAAGAGCTCCTGTC	0.672000														17			13		0	0	0.000132079	0	0
ROR2	4920	broad.mit.edu	37	9	94487018	94487018	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:94487018G>A	uc004arj.2	-	8	1957	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	ROR2_uc004ari.1_Silent_p.A446A	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	586	Protein kinase.				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			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						GGGGCTCCAGGGCGGACTTCA	0.647000														16			4		0	0	0.000602214	0	0
KCNA10	3744	broad.mit.edu	37	1	111060615	111060615	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:111060615G>A	uc001dzt.1	-	0	1183	c.795C>T	c.(793-795)acC>acT	p.T265T		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	265						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CGGTGAACATGGTCTGGGAGA	0.557000														54			13		0	0	0.000422831	0	0
PZP	5858	broad.mit.edu	37	12	9307347	9307347	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:9307347C>T	uc001qvl.3	-	28	3668	c.3639G>A	c.(3637-3639)gaG>gaA	p.E1213E	PZP_uc009zgl.3_Silent_p.E999E	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.									p.V1212V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGGATGTCATCTCCACCTCAG	0.572000														29			8		0	0	0.000274275	0	0
FES	2242	broad.mit.edu	37	15	91430500	91430500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:91430500G>A	uc002bpv.3	+	4	687	c.568G>A	c.(568-570)Gtg>Atg	p.V190M	FES_uc010uqj.2_Missense_Mutation_p.V132M|FES_uc010uqk.2_Missense_Mutation_p.V172M|FES_uc002bpx.3_Missense_Mutation_p.V190M|FES_uc002bpy.3_Missense_Mutation_p.V132M|FES_uc010bny.3_Missense_Mutation_p.V132M	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	190	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGTGCTGGGCGTGCGGGCTGC	0.627000														192			43		0	0	0.000680045	0	0
EIF3D	8664	broad.mit.edu	37	22	36922108	36922108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:36922108C>T	uc003apr.3	-	1	226	c.61G>A	c.(61-63)Gtt>Att	p.V21I	EIF3D_uc011amt.2_Missense_Mutation_p.V21I|EIF3D_uc011ams.2_5'UTR	NM_003753	NP_003744	O15371	EIF3D_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.	21						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TGCTCGGGAACCGCACAGGGA	0.517000														36			6		0	0	3.59834e-05	0	0
PIGR	5284	broad.mit.edu	37	1	207110523	207110523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:207110523C>T	uc001hez.3	-	3	1146	c.962G>A	c.(961-963)gGg>gAg	p.G321E	PIGR_uc009xbz.3_Missense_Mutation_p.G321E	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	321	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGGTAGCGCCCTGCATCCTC	0.592000														20			4		0	0	0.000602214	0	0
DYSF	8291	broad.mit.edu	37	2	71827952	71827952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:71827952G>A	uc010fen.3	+	33	4018	c.3877G>A	c.(3877-3879)Gag>Aag	p.E1293K	DYSF_uc010fei.3_Missense_Mutation_p.E1292K|DYSF_uc010feh.3_Missense_Mutation_p.E1261K|DYSF_uc002sig.4_Missense_Mutation_p.E1261K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.E1306K|DYSF_uc010fee.3_Missense_Mutation_p.E1275K|DYSF_uc010fef.3_Missense_Mutation_p.E1292K|DYSF_uc002sie.3_Missense_Mutation_p.E1275K|DYSF_uc010feo.3_Missense_Mutation_p.E1307K|DYSF_uc010fej.3_Missense_Mutation_p.E1262K|DYSF_uc010fel.3_Missense_Mutation_p.E1262K|DYSF_uc010fem.3_Missense_Mutation_p.E1276K|DYSF_uc002sif.3_Missense_Mutation_p.E1276K|DYSF_uc010fek.3_Missense_Mutation_p.E1293K|DYSF_uc010yqy.2_Missense_Mutation_p.E156K|DYSF_uc010yqz.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.	1275						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						GGCCTCTTTTGAGCTCATCCA	0.632000														57			10		0	0	6.40141e-05	0	0
PFKFB1	5207	broad.mit.edu	37	X	54975519	54975519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:54975519C>T	uc004dty.1	-	8	1053	c.982G>A	c.(982-984)Gag>Aag	p.E328K	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.E263K	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	328	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GCATCAATCTCATTCAGGGCC	0.582000														13			10		0	0	0.000673444	0	0
SLC52A1	55065	broad.mit.edu	37	17	4936279	4936279	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:4936279C>T	uc002gap.4	-	4	2033	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	SLC52A1_uc002gao.4_Silent_p.K440K|SLC52A1_uc010ckw.3_Silent_p.K318K|SLC52A1_uc010ckx.3_3'UTR	NM_001104577	NP_060456	Q9NWF4	RFT_HUMAN	Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA.	440						integral to plasma membrane	receptor activity|riboflavin transporter activity	p.K440N(1)									CTACACAGTCCTTTCTGCTTT	0.607000														24			6		0	0	0.000157383	0	0
SGK2	10110	broad.mit.edu	37	20	42199276	42199276	+	Missense_Mutation	SNP	G	A	A	rs35187177		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:42199276G>A	uc002xkv.3	+	5	779	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	SGK2_uc002xkr.3_Missense_Mutation_p.R127Q|SGK2_uc010ggm.3_Missense_Mutation_p.R127Q|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.R127Q	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	187	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACCTGCAGCGGGAGCGCCGG	0.642000														36			12		0	0	0.00010058	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149726	63149726	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:63149726G>A	uc001nww.3	+	5	1318	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	350					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TATGTAAAAGGATCTCCCTCC	0.408000														119			22		0	0	0.000375601	0	0
FGFR2	2263	broad.mit.edu	37	10	123239441	123239441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:123239441G>A	uc021pzz.1	-	17	3043	c.2396C>T	c.(2395-2397)tCt>tTt	p.S799F	FGFR2_uc021pzv.1_Missense_Mutation_p.S687F|FGFR2_uc021pzw.1_Missense_Mutation_p.S684F|FGFR2_uc021pzx.1_Intron|FGFR2_uc021pzy.1_Missense_Mutation_p.S800F|FGFR2_uc010qtl.2_Missense_Mutation_p.S683F|FGFR2_uc010qtm.2_Missense_Mutation_p.S682F|FGFR2_uc001lfg.4_Missense_Mutation_p.S407F|FGFR2_uc001lfk.1_Non-coding_Transcript	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	799					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGGGTCTGGAGAAAAAACAGA	0.453000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					43			19		0	0	0.000132079	0	0
COL1A2	1278	broad.mit.edu	37	7	94050342	94050342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:94050342C>T	uc003ung.1	+	37	2788	c.2317C>T	c.(2317-2319)Cct>Tct	p.P773S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	773			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCCCCCGGTCCTGCTGGAAG	0.433000										HNSCC(75;0.22)				59			16		0	0	9.7654e-05	0	0
SPSB1	80176	broad.mit.edu	37	1	9416644	9416644	+	Splice_Site	SNP	C	T	T	rs150195464		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:9416644C>T	uc010oae.2	+	2	1033	c.694_splice	c.e2+1	p.P232_splice	SPSB1_uc001apv.3_Splice_Site_p.P232_splice	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	232	SOCS box.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CGGACTCGATCGTAAGTGTCT	0.532000														25			12		0	0	0.000151284	0	0
GRIA1	2890	broad.mit.edu	37	5	153054092	153054092	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:153054092G>A	uc011dcy.2	+	5	789	c.762G>A	c.(760-762)aaG>aaA	p.K254K	GRIA1_uc003lva.4_Silent_p.K244K|GRIA1_uc003luy.4_Silent_p.K244K|GRIA1_uc003luz.4_Silent_p.K149K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.K164K|GRIA1_uc011dcx.2_Silent_p.K175K|GRIA1_uc011dcz.2_Silent_p.K254K|GRIA1_uc010jia.1_Silent_p.K224K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	244					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACAAATTCAAGGAGAGTGGCG	0.478000														108			40		0	0	0.000781405	0	0
ASAP3	55616	broad.mit.edu	37	1	23759722	23759722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:23759722C>T	uc001bha.2	-	21	2295	c.2171G>A	c.(2170-2172)gGg>gAg	p.G724E	ASAP3_uc001bgy.1_Missense_Mutation_p.G228E|ASAP3_uc010odz.1_Missense_Mutation_p.G614E|ASAP3_uc010oea.1_Missense_Mutation_p.G715E	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	724					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	p.G724W(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GTCCAGCCTCCCACTGGCCCA	0.632000														59			15		0	0	0.000566183	0	0
VAV1	7409	broad.mit.edu	37	19	6825082	6825082	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:6825082C>G	uc002mfu.1	+	6	770	c.673C>G	c.(673-675)Caa>Gaa	p.Q225E	VAV1_uc010xjh.1_Missense_Mutation_p.Q193E|VAV1_uc010dva.1_Missense_Mutation_p.Q225E|VAV1_uc002mfv.1_Missense_Mutation_p.Q170E	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	225	DH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GAAGCCCCTGCAACGGTTCCT	0.527000														94			21		0	0	0.000720815	0	0
PDZD7	79955	broad.mit.edu	37	10	102789755	102789755	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:102789755G>C	uc001ksn.3	-	1	472	c.222C>G	c.(220-222)atC>atG	p.I74M	PDZD7_uc021pxc.1_Missense_Mutation_p.I74M|PDZD7_uc001kso.2_Missense_Mutation_p.I74M|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	74						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCCTACCTTCGATGGGGGAGT	0.637000														38			5		0	0	8.12818e-05	0	0
AQP6	363	broad.mit.edu	37	12	50369414	50369414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:50369414C>T	uc001rvr.1	+	3	1502	c.809C>T	c.(808-810)tCc>tTc	p.S270F	AQP6_uc001rvp.1_Missense_Mutation_p.S96F|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	270					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						AAGAAGGAATCCCAGCCGGGT	0.672000														12			5		0	0	0.000602214	0	0
KCNH4	23415	broad.mit.edu	37	17	40321597	40321597	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:40321597C>G	uc002hzb.2	-	8	1821	c.1488G>C	c.(1486-1488)aaG>aaC	p.K496N		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	496					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGATGAAGTCCTTGAGGTCCT	0.632000														29			18		0	0	0.000566183	0	0
SPEN	23013	broad.mit.edu	37	1	16258240	16258240	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:16258240C>T	uc001axk.1	+	10	5709	c.5505C>T	c.(5503-5505)atC>atT	p.I1835I	SPEN_uc010obp.1_Silent_p.I1794I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1835					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGTGAGTATCGTGGAGAAGC	0.483000														39			21		0	0	0.000375601	0	0
COL4A5	1287	broad.mit.edu	37	X	107840644	107840644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:107840644G>A	uc022ccg.1	+	23	1827	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E	COL4A5_uc004enz.1_Missense_Mutation_p.G542E|COL4A5_uc004eob.1_Missense_Mutation_p.G150E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	542	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						GGCTTTCCTGGATCTAAAGGT	0.453000									Alport syndrome with Diffuse Leiomyomatosis					34			19		0	0	0.000295444	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406203	148406203	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:148406203C>T	uc003lpu.3	-	11	3137	c.2985G>A	c.(2983-2985)agG>agA	p.R995R	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Silent_p.R639R|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Silent_p.R542R|SH3TC2_uc010jgx.3_Silent_p.R988R|SH3TC2_uc003lpv.1_Missense_Mutation_p.G578E|SH3TC2_uc011dbz.1_Missense_Mutation_p.G916E	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	995							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCGGTCCCTGAGTTGCT	0.577000														44			16		0	0	0.00074312	0	0
EBF2	64641	broad.mit.edu	37	8	25766038	25766038	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:25766038C>T	uc003xes.2	-	6	850	c.585G>A	c.(583-585)caG>caA	p.Q195Q	DOCK5_uc003xek.3_Intron	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	195					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCAAACAATTCTGATTGCACT	0.373000														31			8		0	0	0.000673444	0	0
NCAN	1463	broad.mit.edu	37	19	19339385	19339385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:19339385G>A	uc002nlz.3	+	7	3055	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	NCAN_uc010ecc.1_Missense_Mutation_p.E550K	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	986					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTTCTGGGAGGAGGTGGCAAG	0.642000														29			9		0	0	0.000274275	0	0
NPR2	4882	broad.mit.edu	37	9	35800763	35800763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:35800763C>T	uc003zyd.3	+	5	1276	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	NPR2_uc010mlb.3_Missense_Mutation_p.P426S	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	426					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	p.I425V(1)		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)	ACGGCCTATTCCCTGGGTGAA	0.607000														17			8		0	0	0.000274275	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12812255	12812255	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:12812255G>A	uc002gnr.4	+	3	567	c.240G>A	c.(238-240)gaG>gaA	p.E80E	ARHGAP44_uc010vvk.2_Silent_p.E80E|ARHGAP44_uc010vvl.2_Silent_p.E80E|ARHGAP44_uc002gns.4_5'UTR|ARHGAP44_uc010vvm.2_Silent_p.E80E|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	80	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GTCTGATGGAGGGGTCAGCTA	0.443000														111			30		0	0	0.000191422	0	0
IFNE	338376	broad.mit.edu	37	9	21481111	21481111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:21481111C>T	uc003zpg.3	-	0	1202	c.583G>A	c.(583-585)Gac>Aac	p.D195N	MIR31HG_uc003zpe.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	Homo sapiens interferon, epsilon (IFNE), mRNA.	195					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						TGCTTCATGTCGTTCAAGGGT	0.458000														97			19		0	0	0.000375601	0	0
LRRC23	10233	broad.mit.edu	37	12	7019057	7019057	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:7019057C>T	uc001qrt.4	+	5	1017	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	LRRC23_uc001qrp.3_Nonsense_Mutation_p.Q209*|LRRC23_uc001qrq.3_Nonsense_Mutation_p.Q209*|LRRC23_uc001qrs.3_Nonsense_Mutation_p.Q158*|LRRC23_uc009zfh.3_Intron	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	209										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GGTCTAGGCCCAAAACATGCT	0.498000														45			11		0	0	0.00010058	0	0
CUZD1	50624	broad.mit.edu	37	10	124596416	124596416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:124596416C>T	uc001lgs.3	-	6	1699	c.748G>A	c.(748-750)Gat>Aat	p.D250N	CUZD1_uc001lgp.3_5'UTR|CUZD1_uc009yad.3_5'UTR|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_Splice_Site|CUZD1_uc009yae.3_Splice_Site|CUZD1_uc010qtz.2_Missense_Mutation_p.D250N	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	250	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTGGCATAATCTGTAGACAAC	0.438000														67			21		0	0	0.000586117	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057982	152057982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:152057982C>T	uc001ezo.1	-	2	2241	c.2176G>A	c.(2176-2178)Gag>Aag	p.E726K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	726							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GAATTGTCCTCATCTAGACTT	0.458000														77			16		0	0	0.00074312	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475592	140475592	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:140475592G>A	uc003lil.3	+	0	1356	c.1218G>A	c.(1216-1218)gtG>gtA	p.V406V	PCDHB2_uc003lim.1_Silent_p.V67V	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	406	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACTCTGGTGATAAGCACGG	0.502000														36			14		0	0	0.000422831	0	0
RFX7	64864	broad.mit.edu	37	15	56387736	56387736	+	Silent	SNP	T	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:56387736T>C	uc010bfn.3	-	8	2190	c.2190A>G	c.(2188-2190)caA>caG	p.Q730Q	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Silent_p.Q544Q	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	633					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AATTCAAGGGTTGATTTGCTC	0.413000														40			10		0	0	6.40141e-05	0	0
C10orf71	118461	broad.mit.edu	37	10	50532236	50532236	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:50532236A>G	uc021pqb.1	+	0	1646	c.1646A>G	c.(1645-1647)gAg>gGg	p.E549G	C10orf71_uc021pqa.1_Missense_Mutation_p.E548G|C10orf71_uc021pqc.1_Missense_Mutation_p.E549G	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	549										endometrium(1)	1						AATGGGCTTGAGGAAAGCCCT	0.512000														21			9		0	0	0.000274275	0	0
TRHR	7201	broad.mit.edu	37	8	110100269	110100269	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:110100269G>A	uc003ymz.4	+	0	617	c.528G>A	c.(526-528)gtG>gtA	p.V176V		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	176						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)			ATGCTATTGTGATATCCTGTG	0.403000														59			12		0	0	0.000151284	0	0
C9orf171	389799	broad.mit.edu	37	9	135374979	135374979	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:135374979C>T	uc004cbn.3	+	3	672	c.624C>T	c.(622-624)atC>atT	p.I208I	C9orf171_uc004cbo.3_Silent_p.I172I	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	208										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CATTTGGGATCCGGGCACGGT	0.592000														21			8		0	0	0.000157383	0	0
MLH3	27030	broad.mit.edu	37	14	75497287	75497287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:75497287G>A	uc001xrd.1	-	8	4162	c.3946C>T	c.(3946-3948)Ctt>Ttt	p.L1316F	MLH3_uc001xre.1_Missense_Mutation_p.L1292F|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	1316					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CCTCTCCGAAGTTCATTGGCT	0.423000								Mismatch excision repair (MMR)						110			26		0	0	0.000409698	0	0
ZNF578	147660	broad.mit.edu	37	19	53007926	53007926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:53007926G>A	uc002pzp.4	+	4	326	c.82G>A	c.(82-84)Gat>Aat	p.D28N		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GACTTTCAGGGATGTGGCTAT	0.418000														160			28		0	0	0.000339439	0	0
SLC6A17	388662	broad.mit.edu	37	1	110735144	110735144	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:110735144C>T	uc009wfq.3	+	7	1584	c.1123C>T	c.(1123-1125)Cta>Tta	p.L375L	SLC6A17_uc001dze.1_5'UTR	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	375					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGAGAAAATCCTAGGGTACCT	0.552000														33			10		0	0	0.000673444	0	0
GALT	2592	broad.mit.edu	37	9	34647856	34647856	+	Silent	SNP	G	A	A	rs141232328		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:34647856G>A	uc003zve.3	+	4	472	c.405G>A	c.(403-405)tcG>tcA	p.S135S	GALT_uc003zvf.3_Silent_p.S26S|GALT_uc011lop.1_Silent_p.S87S|IL11RA_uc003zvi.3_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.	135			S -> L (in GALCT; frequent mutation in African Americans; about 5% of normal activity).|S -> W (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		ACCCCTGGTCGGATGTAACGC	0.597000									Galactosemia					62			15		0	0	0.000219431	0	0
OR8H2	390151	broad.mit.edu	37	11	55873147	55873147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:55873147C>T	uc010riy.2	+	0	629	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTGATGGTGTCCCTTTTCACA	0.398000										HNSCC(53;0.14)				83			24		0	0	0.000586117	0	0
CSMD3	114788	broad.mit.edu	37	8	113277712	113277712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:113277712C>T	uc003ynu.3	-	59	9775	c.9616G>A	c.(9616-9618)Gaa>Aaa	p.E3206K	CSMD3_uc003yns.3_Missense_Mutation_p.E2408K|CSMD3_uc003ynt.3_Missense_Mutation_p.E3166K|CSMD3_uc011lhx.2_Missense_Mutation_p.E3037K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3206	Sushi 24.					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						CCATTCAATTCCATCGTGTAG	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				87			22		0	0	0.000229342	0	0
IFNA21	3452	broad.mit.edu	37	9	21166166	21166166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:21166166C>T	uc003zom.2	-	0	494	c.446G>A	c.(445-447)aGa>aAa	p.R149K		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	149					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAGAGTGATTCTTTGGAAGTA	0.448000														185			45		0	0	0.000781405	0	0
NLRP11	204801	broad.mit.edu	37	19	56320375	56320375	+	Missense_Mutation	SNP	C	T	T	rs141337326		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:56320375C>T	uc010ygf.2	-	4	2312	c.1601G>A	c.(1600-1602)cGt>cAt	p.R534H	NLRP11_uc002qlz.3_Missense_Mutation_p.R435H|NLRP11_uc002qmb.3_Missense_Mutation_p.R435H|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	534							ATP binding	p.R534C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTCCGGGTCACGGTCCAAATG	0.453000														131			24		0	0	0.000586117	0	0
abParts	0	broad.mit.edu	37	14	106552520	106552520	+	RNA	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:106552520G>A	uc021ser.1	-	1994		c.36647C>T								Parts of antibodies, mostly variable regions.																		GGCTGCACAGGAGAGTCTCAG	0.562000														60			7		0	0	8.12818e-05	0	0
OR51L1	119682	broad.mit.edu	37	11	5020224	5020224	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5020224G>A	uc010qyu.2	+	0	12	c.12G>A	c.(10-12)tgG>tgA	p.W4*		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGAGACTGGAATAACAGTG	0.418000														78			22		0	0	0.000586117	0	0
IRX2	153572	broad.mit.edu	37	5	2748634	2748634	+	Silent	SNP	C	T	T	rs148326536		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:2748634C>T	uc003jda.3	-	2	1430	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G	IRX2_uc003jdb.3_Silent_p.G396G	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	396						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGTTCAAGTTCCCGTAGTTTG	0.716000														31			6		0	0	0.000157383	0	0
RYR2	6262	broad.mit.edu	37	1	237787107	237787107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:237787107C>T	uc001hyl.1	+	38	6079	c.5959C>T	c.(5959-5961)Cca>Tca	p.P1987S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1987	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	p.P1987Q(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)			AAGTGAATGTCCATGTCCAGA	0.323000														74			17		0	0	0.000295444	0	0
CTSE	1510	broad.mit.edu	37	1	206331162	206331162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:206331162G>A	uc001hdu.3	+	8	1286	c.1168G>A	c.(1168-1170)Gga>Aga	p.G390R	CTSE_uc001hdv.3_Nonsense_Mutation_p.W342*|CTSE_uc010prs.2_Nonsense_Mutation_p.W267*	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	395					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TAACCGTGTGGGACTGGCCCC	0.547000														99			19		0	0	0.00047179	0	0
SPIN1	10927	broad.mit.edu	37	9	91077651	91077651	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:91077651C>T	uc010mqj.3	+	3	842	c.342C>T	c.(340-342)ctC>ctT	p.L114L	SPIN1_uc004apy.3_Silent_p.L114L|SPIN1_uc004apz.3_Silent_p.L114L|SPIN1_uc010mqk.3_Silent_p.L114L	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	Homo sapiens spindlin 1 (SPIN1), mRNA.	114					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TTGAAGTCCTCCCTGATAGAG	0.284000														80			13		0	0	0.000422831	0	0
CAD	790	broad.mit.edu	37	2	27445437	27445437	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:27445437C>T	uc002rji.3	+	4	708	c.546C>T	c.(544-546)gaC>gaT	p.D182D	CAD_uc010eyw.3_Silent_p.D182D	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	182	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TTGCTTTGGACTGTGGCCTCA	0.552000														31			7		0	0	0.000274275	0	0
GPR98	84059	broad.mit.edu	37	5	89992806	89992806	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:89992806G>A	uc003kju.3	+	33	8094	c.7998G>A	c.(7996-7998)gaG>gaA	p.E2666E	GPR98_uc003kjt.3_Silent_p.E372E|GPR98_uc003kjv.3_Silent_p.E266E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2666	Calx-beta 18.				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)		CTGAACCAGAGGATGACGAAA	0.373000														40			9		0	0	0.000673444	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926713	22926714	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:22926713_22926714CC>AA	uc002dli.3	+	1	1006_1007	c.934_935CC>AA	c.(934-936)cct>AAt	p.P312N		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	312						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CAAAGGATTCCCTTGCTTGAAA	0.495000														149			7		0	0	6.4e-05	0	0
ZNF792	126375	broad.mit.edu	37	19	35449944	35449944	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:35449944T>C	uc002nxh.1	-	3	1202	c.815A>G	c.(814-816)cAc>cGc	p.H272R		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	272					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)			GATTCTCTGGTGCTGAACAAG	0.463000														53			15		0	0	0.000132079	0	0
AMPH	273	broad.mit.edu	37	7	38543259	38543259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:38543259C>T	uc003tgu.3	-	2	412	c.196G>A	c.(196-198)Gca>Aca	p.A66T	AMPH_uc003tgv.3_Missense_Mutation_p.A66T	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	66	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCTTTGATTGCTGCTAAATAT	0.388000														51			18		0	0	0.000175454	0	0
OR8G1	26494	broad.mit.edu	37	11	124121193	124121193	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:124121193C>T	uc001pzx.3	+	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CTGCAGCATTCATGTAGTTGC	0.478000														58			8		0	0	0.000442599	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668693	176668693	+	Silent	SNP	G	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:176668693G>T	uc001gkz.3	+	7	4368	c.3204G>T	c.(3202-3204)gtG>gtT	p.V1068V	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1068					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCCCGTGGTGGTGACACATT	0.567000														67			16		7.07596e-05	0.000804157	0.00074312	1	0
TRIM27	5987	broad.mit.edu	37	6	28872284	28872284	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:28872284C>A	uc003nlr.3	-	7	1464	c.1105G>T	c.(1105-1107)Ggg>Tgg	p.G369W	TRIM27_uc003nls.3_Intron|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	369	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TAATGTCTCCCGGCGATGAAG	0.542000			T	RET	papillary thyroid									58			6		0.000157383	0.00177312	0.000157383	1	0
UGT8	7368	broad.mit.edu	37	4	115544196	115544196	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:115544196T>A	uc003ibs.2	+	1	682	c.160T>A	c.(160-162)Ttc>Atc	p.F54I	UGT8_uc003ibt.2_Missense_Mutation_p.F54I|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	54					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCATACAGTGTTCCTCCTCTC	0.488000														13			20		0	0	0.000175454	0	0
SBNO2	22904	broad.mit.edu	37	19	1127675	1127675	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:1127675G>A	uc002lrk.4	-	4	607	c.369C>T	c.(367-369)ttC>ttT	p.F123F	SBNO2_uc002lrj.4_Silent_p.F66F|SBNO2_uc010dse.3_Silent_p.F116F|SBNO2_uc010dsf.3_Silent_p.F66F	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	123					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCGGCAGGAAGTCGGGCG	0.607000														39			11		0	0	6.40141e-05	0	0
RNF152	220441	broad.mit.edu	37	18	59483555	59483555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr18:59483555C>T	uc002lih.1	-	1	554	c.142G>A	c.(142-144)Gat>Aat	p.D48N	RNF152_uc021ula.1_Missense_Mutation_p.D48N	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	48					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CACCGCACATCCTTCTGGCTG	0.637000														20			12		0	0	0.00010058	0	0
VCP	7415	broad.mit.edu	37	9	35066718	35066718	+	Silent	SNP	T	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:35066718T>C	uc003zvy.2	-	3	788	c.399A>G	c.(397-399)gtA>gtG	p.V133V	VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Silent_p.V88V	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	133					ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTAAGGTATACCTCGAAGA	0.473000														23			14		0	0	0.000151284	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801225	185801225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:185801225G>A	uc002uph.3	+	3	1696	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	368						intracellular	zinc ion binding	p.N367Y(1)		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						CATGTCTAATGATTGCATATC	0.388000														27			17		0	0	9.7654e-05	0	0
TCL6	27004	broad.mit.edu	37	14	96129885	96129885	+	RNA	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:96129885C>T	uc001yep.1	+	5		c.1423C>T			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Intron|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Non-coding_Transcript|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		tgtttTCATGCTATCTCAGTT	0.542000			T	TRA@	T-ALL									33			7		0	0	0.000274275	0	0
DIP2A	23181	broad.mit.edu	37	21	47918558	47918558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr21:47918558C>T	uc002zjo.2	+	4	650	c.467C>T	c.(466-468)cCg>cTg	p.P156L	DIP2A_uc011afy.1_Missense_Mutation_p.P92L|DIP2A_uc011afz.1_Missense_Mutation_p.P156L|DIP2A_uc002zjl.3_Missense_Mutation_p.P156L|DIP2A_uc002zjm.3_Missense_Mutation_p.P156L|DIP2A_uc010gql.3_Missense_Mutation_p.P156L|DIP2A_uc002zjn.3_Missense_Mutation_p.P156L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	156					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.P156Q(2)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACCTCCACTCCGCTCCAGAGC	0.602000														74			24		0	0	0.000375601	0	0
SAT2	112483	broad.mit.edu	37	17	7529810	7529810	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:7529810G>A	uc002gic.2	-	5	709	c.468C>T	c.(466-468)ttC>ttT	p.F156F	SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SAT2_uc002gib.1_Non-coding_Transcript|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank	NM_133491	NP_597998	Q96F10	SAT2_HUMAN	Homo sapiens spermidine/spermine N1-acetyltransferase family member 2 (SAT2), mRNA.	156	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	GAAAGCAGAAGAAGTGCCAGC	0.562000														44			13		0	0	0.000151284	0	0
LRRN1	57633	broad.mit.edu	37	3	3886930	3886930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:3886930C>T	uc003bpt.4	+	1	1366	c.605C>T	c.(604-606)cCt>cTt	p.P202L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.P202L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	202						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GGAGAAAACCCTGTGATTGGA	0.403000														109			19		0	0	0.000175454	0	0
EPHX3	79852	broad.mit.edu	37	19	15338647	15338647	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:15338647G>A	uc002nap.3	-	5	1001	c.792C>T	c.(790-792)ttC>ttT	p.F264F	EPHX3_uc002naq.3_Silent_p.F264F	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	Homo sapiens epoxide hydrolase 3 (EPHX3), transcript variant 1, mRNA.	264						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AGTTATAAAGGAAGGCCTCGA	0.552000														23			4		0	0	0.000157383	0	0
GLI2	2736	broad.mit.edu	37	2	121746665	121746665	+	Missense_Mutation	SNP	G	A	A	rs150597008		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:121746665G>A	uc010flp.3	+	12	3205	c.3175G>A	c.(3175-3177)Gac>Aac	p.D1059N	GLI2_uc002tmq.1_Missense_Mutation_p.D731N|GLI2_uc002tmr.1_Missense_Mutation_p.D714N|GLI2_uc002tmt.4_Missense_Mutation_p.D731N|GLI2_uc002tmu.4_Missense_Mutation_p.D714N	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1059					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCGGAGGACGACCTGGTGCT	0.706000														24			7		0	0	0.000157383	0	0
CHD1	1105	broad.mit.edu	37	5	98235231	98235231	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:98235231C>A	uc003knf.3	-	6	1186	c.1038G>T	c.(1036-1038)atG>atT	p.M346I		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	346	Chromo 1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCAATTTTTTCATTCCTCTAA	0.323000														75			38		9.73076e-26	1.12054e-24	0.000270559	1	0
GPR32	2854	broad.mit.edu	37	19	51274920	51274920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:51274920C>T	uc010ycf.2	+	0	1063	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	355						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CAACGCCCCCCGGGAATGATG	0.522000														57			10		0	0	6.40141e-05	0	0
PID1	55022	broad.mit.edu	37	2	229890709	229890709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:229890709G>A	uc002vpr.4	-	2	430	c.392C>T	c.(391-393)cCg>cTg	p.P131L	PID1_uc002vps.4_Missense_Mutation_p.P129L|PID1_uc002vpt.4_Missense_Mutation_p.P98L|PID1_uc002vpu.4_Missense_Mutation_p.P49L	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	131	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGCATTGGCCGGAAAGACATC	0.547000														22			15		0	0	0.000308642	0	0
BTN3A1	11119	broad.mit.edu	37	6	26407969	26407969	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:26407969C>T	uc003nhv.3	+	3	872	c.504C>T	c.(502-504)tcC>tcT	p.S168S	BTN3A1_uc011dkj.2_Silent_p.S168S|BTN3A1_uc010jqj.3_Silent_p.S168S|BTN3A1_uc011dkk.2_Intron	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	168	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGTGCAGGTCCACTGGCTGGT	0.522000														74			11		0	0	6.40141e-05	0	0
APOB	338	broad.mit.edu	37	2	21224871	21224871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:21224871C>T	uc002red.3	-	28	13551	c.13423G>A	c.(13423-13425)Gaa>Aaa	p.E4475K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4475					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)	TTAATTATTTCCTGAGCAGTG	0.393000														452			106		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9091402	9091402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:9091402C>T	uc002mkp.3	-	0	617	c.413G>A	c.(412-414)gGa>gAa	p.G138E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	138	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G138G(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTAAAATTTCCTTCTGTGGA	0.493000														37			8		0	0	0.000274275	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808384	18808384	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:18808384G>A	uc001bax.3	+	0	961	c.909G>A	c.(907-909)caG>caA	p.Q303Q	KLHDC7A_uc009vpg.3_Silent_p.Q85Q	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	303						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCTTCCAGGGCAGGCTGG	0.632000														26			13		0	0	0.000151284	0	0
COL7A1	1294	broad.mit.edu	37	3	48605294	48605295	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:48605294_48605295GG>AA	uc003ctz.2	-	105	7906_7907	c.7905_7906CC>TT	c.(7903-7908)ggcctt>ggTTtt	p.L2636F		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2636	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCCATCAAGGCCACAGGCTC	0.599000														36			8		0	0	6.4e-05	0	0
MATN3	4148	broad.mit.edu	37	2	20201770	20201770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:20201770G>A	uc002rdl.3	-	3	1051	c.988C>T	c.(988-990)Cat>Tat	p.H330Y	MATN3_uc010exu.1_Missense_Mutation_p.H288Y	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	330	EGF-like 2.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.H330D(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTCACAATGATAAGAGCCA	0.418000														38			8		0	0	0.000274275	0	0
CD2AP	23607	broad.mit.edu	37	6	47541892	47541892	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:47541892C>T	uc003oyw.3	+	5	1090	c.634C>T	c.(634-636)Cga>Tga	p.R212*		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	212					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAAGAAAATTCGAGGAATTGG	0.408000														104			28		0	0	0.000184323	0	0
DL492607	0	broad.mit.edu	37	11	113660519	113660519	+	RNA	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:113660519G>A	uc001pof.1	+	0		c.567G>A								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		CCCCGATGAGGAGCTGCGCCA	0.587000														8			4		0	0	0.00024832	0	0
ZNF613	79898	broad.mit.edu	37	19	52448381	52448381	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:52448381C>T	uc002pxz.2	+	5	1709	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	ZNF613_uc002pya.2_Silent_p.L379L	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGGGCAACCTCCTTATTCATC	0.408000														26			16		0	0	0.000422831	0	0
GABRB3	2562	broad.mit.edu	37	15	27184496	27184496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:27184496C>T	uc001zbb.3	-	0	191	c.88G>A	c.(88-90)Ggc>Agc	p.G30S	GABRA5_uc001zbd.2_Intron|GABRA5_uc021sgi.1_Intron	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	0					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATGAAATGCCCCCGATTTCA	0.577000														47			6		0	0	0.000274275	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1969909	1969910	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:1969909_1969910CC>TT	uc002lul.4	+	1	660_661	c.138_139CC>TT	c.(136-141)ttccgc>ttTTgc	p.R47C	CSNK1G2_uc010dsu.3_5'UTR	NM_001319	NP_001310	P78368	KC1G2_HUMAN	Homo sapiens casein kinase 1, gamma 2 (CSNK1G2), mRNA.	47	Protein kinase.				Wnt receptor signaling pathway|sphingolipid metabolic process	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCAACTTCCGCGTCGGCAA	0.718000														28			9		0	0	6.4e-05	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957880	152957880	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:152957880G>A	uc021ozn.1	+	0	174	c.174G>A	c.(172-174)caG>caA	p.Q58Q	SPRR1A_uc009wnu.2_Silent_p.Q58Q|SPRR1A_uc001faw.3_Silent_p.Q58Q	NM_005987	NP_005978	P35321	SPR1A_HUMAN	Homo sapiens small proline-rich protein 1A (SPRR1A), transcript variant 2, mRNA.	58	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCCTGCCAGCCCAAGGTTC	0.637000														59			7		0	0	0.000157383	0	0
RABL3	285282	broad.mit.edu	37	3	120449611	120449611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:120449611G>A	uc003edx.3	-	1	100	c.70C>T	c.(70-72)Cat>Tat	p.H24Y		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA.	24	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CATAGGAGATGGACTAACGAA	0.383000														71			21		0	0	0.000720815	0	0
MUSK	4593	broad.mit.edu	37	9	113509958	113509958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:113509958G>A	uc022blv.1	+	6	925	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	MUSK_uc022blt.1_Missense_Mutation_p.R264Q|MUSK_uc004bez.2_Missense_Mutation_p.R274Q|MUSK_uc022blu.1_Missense_Mutation_p.R264Q	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	264	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R264R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GTGAAAGACCGAGTGATTGAC	0.438000														118			35		0	0	0.000680045	0	0
CPT1C	126129	broad.mit.edu	37	19	50212081	50212081	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:50212081G>A	uc010eng.3	+	13	1867	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	CPT1C_uc002ppl.4_Nonsense_Mutation_p.W483*|CPT1C_uc002ppi.3_Nonsense_Mutation_p.W434*|CPT1C_uc002ppk.3_Nonsense_Mutation_p.W506*|CPT1C_uc010enh.3_Nonsense_Mutation_p.W517*|CPT1C_uc002ppj.3_Nonsense_Mutation_p.W517*|CPT1C_uc010ybc.1_Nonsense_Mutation_p.W388*|CPT1C_uc010eni.1_Nonsense_Mutation_p.W174*	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	517					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGCTGCAATGGGACCTTCCAG	0.587000														24			8		0	0	0.000274275	0	0
UACA	55075	broad.mit.edu	37	15	70960302	70960302	+	Silent	SNP	T	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:70960302T>C	uc002asr.3	-	15	2825	c.2721A>G	c.(2719-2721)ttA>ttG	p.L907L	UACA_uc010uke.2_Silent_p.L798L|UACA_uc002asq.3_Silent_p.L894L|UACA_uc010bin.1_Silent_p.L882L	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	907						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GGTTTCTTTTTAATATTTCAT	0.338000														30			4		0	0	0.00024832	0	0
MAOB	4129	broad.mit.edu	37	X	43656391	43656391	+	Missense_Mutation	SNP	G	A	A	rs12850496		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:43656391G>A	uc004dfz.4	-	5	775	c.599C>T	c.(598-600)tCg>tTg	p.S200L	MAOB_uc011mkx.2_Missense_Mutation_p.S184L|MAOB_uc011mky.2_Missense_Mutation_p.S184L	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	200					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	ATTTGTTGTCGAGATGATTCT	0.463000														23			14		0	0	0.000566183	0	0
CDCA5	113130	broad.mit.edu	37	11	64850834	64850834	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:64850834A>C	uc001ocp.2	-	4	408	c.243_splice	c.e4+1	p.R81_splice	ZFPL1_uc009yqa.3_5'Flank|ZFPL1_uc001ocq.1_5'Flank|ZFPL1_uc010rnx.2_5'Flank	NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	Homo sapiens cell division cycle associated 5 (CDCA5), mRNA.	81					G1/S transition of mitotic cell cycle|cell division|double-strand break repair|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AAGTGAACTCACCCTAGGGCT	0.527000														33			13		0	0	0.000422831	0	0
UNC79	57578	broad.mit.edu	37	14	94158280	94158280	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:94158280C>T	uc001ybv.1	+	44	7193	c.7110C>T	c.(7108-7110)gcC>gcT	p.A2370A	UNC79_uc001ybs.1_Silent_p.A2348A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2525						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGCTAATGGCCCATAACAAAG	0.453000														60			15		0	0	0.00074312	0	0
CACNA1B	774	broad.mit.edu	37	9	140941904	140941904	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:140941904G>A	uc004cog.3	+	22	3742	c.3597G>A	c.(3595-3597)gtG>gtA	p.V1199V	CACNA1B_uc022bqn.1_Silent_p.V1199V|CACNA1B_uc011mfd.2_Silent_p.V800V|CACNA1B_uc004coi.3_Silent_p.V409V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1199					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTGAGATGGTGATAAAGGTGA	0.458000														28			11		0	0	0.00010058	0	0
XIRP2	129446	broad.mit.edu	37	2	168107012	168107012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:168107012C>T	uc002udx.3	+	8	9199	c.9110C>T	c.(9109-9111)tCc>tTc	p.S3037F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S2862F|XIRP2_uc010fpq.3_Missense_Mutation_p.S2815F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2862					actin cytoskeleton organization	cell junction	actin binding	p.S3037Y(2)|p.S3036S(1)		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						ATGATGTCCTCCAAAACAGGA	0.318000														53			17		0	0	0.000175454	0	0
MYH1	4619	broad.mit.edu	37	17	10402091	10402091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:10402091C>T	uc002gmo.3	-	29	4127	c.4033G>A	c.(4033-4035)Gac>Aac	p.D1345N	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1345						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						CGCAGCAGGTCACAGTCATGG	0.512000														46			13		0	0	0.000229342	0	0
IRF6	3664	broad.mit.edu	37	1	209964116	209964116	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:209964116G>A	uc001hhq.2	-	6	1088	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	IRF6_uc010psm.2_Nonsense_Mutation_p.Q167*	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	262					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGCTCCTCCTGGTCAGGCATG	0.562000										HNSCC(57;0.16)				34			13		0	0	0.00010058	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228230	111228230	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:111228230C>T	uc001plg.4	-	3	651	c.396G>A	c.(394-396)acG>acA	p.T132T		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	132					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCCCCACCACCGTGTAGCTGG	0.592000			T	BCL6	NHL									26			9		0	0	0.000442599	0	0
CACNA1C	775	broad.mit.edu	37	12	2717803	2717803	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:2717803C>T	uc009zdu.1	+	27	3856	c.3543C>T	c.(3541-3543)ttC>ttT	p.F1181F	CACNA1C_uc001qkc.2_Silent_p.F1161F|CACNA1C_uc001qjz.2_Silent_p.F1161F|CACNA1C_uc001qkd.2_Silent_p.F1161F|CACNA1C_uc001qke.2_Silent_p.F1161F|CACNA1C_uc001qkf.2_Silent_p.F1161F|CACNA1C_uc009zdw.1_Silent_p.F1161F|CACNA1C_uc001qkg.2_Silent_p.F1161F|CACNA1C_uc001qkh.2_Silent_p.F1161F|CACNA1C_uc001qkl.2_Silent_p.F1181F|CACNA1C_uc001qkj.2_Silent_p.F1161F|CACNA1C_uc001qkk.2_Silent_p.F1161F|CACNA1C_uc001qkn.2_Silent_p.F1161F|CACNA1C_uc001qkm.2_Silent_p.F1161F|CACNA1C_uc001qko.2_Silent_p.F1181F|CACNA1C_uc001qkp.2_Silent_p.F1161F|CACNA1C_uc001qkq.2_Silent_p.F1161F|CACNA1C_uc001qku.2_Silent_p.F1161F|CACNA1C_uc001qkr.2_Silent_p.F1161F|CACNA1C_uc001qks.2_Silent_p.F1161F|CACNA1C_uc001qkt.2_Silent_p.F1161F|CACNA1C_uc009zdv.1_Silent_p.F1158F|CACNA1C_uc001qkb.2_Silent_p.F1161F|CACNA1C_uc001qka.1_Silent_p.F696F|CACNA1C_uc001qki.1_Silent_p.F897F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1181	Dihydropyridine binding (By similarity).				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)	tgaacatcttcgtgggcttcg	0.512000														25			9		0	0	0.000274275	0	0
TAF1B	9014	broad.mit.edu	37	2	10059866	10059867	+	Nonsense_Mutation	DNP	TC	GT	GT			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:10059866_10059867TC>GT	uc002qzz.3	+	13	1582_1583	c.1482_1483TC>GT	c.(1480-1485)cttcag>ctGTag	p.Q495*	TAF1B_uc002qzy.4_Nonsense_Mutation_p.Q495*|TAF1B_uc010yja.2_Nonsense_Mutation_p.Q240*|TAF1B_uc010exd.3_Nonsense_Mutation_p.Q240*	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	495					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GACACAGCCTTCAGGGAGTCCT	0.411000														25			12		0	0	6.4e-05	0	0
ABCB8	11194	broad.mit.edu	37	7	150725644	150725644	+	Silent	SNP	A	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:150725644A>C	uc003wil.4	+	0	135	c.42A>C	c.(40-42)ccA>ccC	p.P14P	ABCB8_uc003wii.2_Silent_p.P14P|ABCB8_uc010lpw.1_5'UTR|ABCB8_uc010lpx.3_Silent_p.P14P|ABCB8_uc011kvd.2_Missense_Mutation_p.I31L|ABCB8_uc003wim.4_5'UTR|ABCB8_uc003wik.4_Silent_p.P14P	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	14						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGTGGCCCATTCCCAGGCA	0.587000											OREG0018445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			6		0	0	0.000157383	0	0
AKAP6	9472	broad.mit.edu	37	14	33201740	33201740	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:33201740C>T	uc001wrq.3	+	9	3251	c.3081C>T	c.(3079-3081)ggC>ggT	p.G1027G	AKAP6_uc010aml.3_Silent_p.G1024G	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1027					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGAAAGGTGGCGTTTTACTAC	0.363000														52			13		0	0	0.000151284	0	0
AQP7	364	broad.mit.edu	37	9	33385025	33385025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:33385025G>A	uc003zst.3	-	7	1179	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	AQP7_uc003zsu.1_3'UTR	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	336					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	p.E335K(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TAGGGCCATGGATTCATGTAA	0.542000														129			19		0	0	0.00047179	0	0
CYLC2	1539	broad.mit.edu	37	9	105767683	105767683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:105767683C>T	uc004bbs.2	+	4	840	c.770C>T	c.(769-771)tCg>tTg	p.S257L		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	257	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GGTGATGAATCGAAGGATGCC	0.378000														57			14		0	0	0.000151284	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111966002	111966002	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:111966002C>G	uc004bdz.1	-	18	2182	c.1887G>C	c.(1885-1887)aaG>aaC	p.K629N		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	629						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGATTCCTCCTTTCCACCCT	0.363000														56			12		0	0	0.000308642	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749360	79749360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:79749360C>T	uc002bew.1	+	1	946	c.871C>T	c.(871-873)Cga>Tga	p.R291*	KIAA1024_uc010unk.1_Nonsense_Mutation_p.R291*	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	291						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACCCCAGAGTCGAAAGGAACC	0.488000														72			18		0	0	0.000132079	0	0
HACE1	57531	broad.mit.edu	37	6	105178179	105178179	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:105178179A>G	uc003pqu.1	-	23	2904	c.2627_splice	c.e23+1	p.C876_splice	HACE1_uc010kcy.1_Splice_Site_p.C358_splice|HACE1_uc010kcz.1_Splice_Site_p.C661_splice|HACE1_uc010kcx.1_Splice_Site_p.C285_splice|HACE1_uc003pqt.1_Splice_Site_p.C529_splice	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	876	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCAACATACCATGTGCTTGAA	0.368000														32			10		0	0	0.000442599	0	0
BRWD1	54014	broad.mit.edu	37	21	40652152	40652152	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr21:40652152G>C	uc002yxk.2	-	8	1149	c.854C>G	c.(853-855)tCt>tGt	p.S285C	BRWD1_uc021wjf.1_Missense_Mutation_p.S285C|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.S5C	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GTATCTTTGAGAGCCTTTGGC	0.348000														29			12		0	0	0.000219431	0	0
KIAA1324	57535	broad.mit.edu	37	1	109716130	109716131	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:109716130_109716131GG>TT	uc021orb.1	+	5	952_953	c.731_732GG>TT	c.(730-732)tgg>tTT	p.W244F	KIAA1324_uc009wex.2_Missense_Mutation_p.W244F|KIAA1324_uc010ovg.2_Missense_Mutation_p.W142F|KIAA1324_uc009wey.3_Missense_Mutation_p.W244F	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	244					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GTCCTCTATTGGAGAACCACAG	0.450000														268			9		0	0	6.4e-05	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94654429	94654429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:94654429C>T	uc001dqj.4	-	14	2014	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.E115K	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	549					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GATCTAGATTCGCTGCTCCCT	0.358000														76			21		0	0	0.000586117	0	0
STAB2	55576	broad.mit.edu	37	12	104142808	104142808	+	Silent	SNP	G	A	A	rs151012888		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:104142808G>A	uc001tjw.3	+	58	6498	c.6312G>A	c.(6310-6312)acG>acA	p.T2104T	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2104	EGF-like 16.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGAAGGGCACGAAGGTCTCCT	0.582000														26			10		0	0	6.40141e-05	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643288	37643288	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:37643288G>A	uc002ofo.1	-	4	1744	c.1513C>T	c.(1513-1515)Cag>Tag	p.Q505*	ZNF585A_uc002ofm.1_Nonsense_Mutation_p.Q450*|ZNF585A_uc002ofn.1_Nonsense_Mutation_p.Q450*	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGACCTCTGGGTGAAGGCC	0.423000														38			11		0	0	0.00010058	0	0
C7	730	broad.mit.edu	37	5	40972545	40972545	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:40972545G>A	uc003jmh.3	+	14	2037	c.1923G>A	c.(1921-1923)caG>caA	p.Q641Q	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	641	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATGGCATACAGAGTCACCCCC	0.423000														26			13		0	0	0.00010058	0	0
SYNGR4	23546	broad.mit.edu	37	19	48878954	48878954	+	Missense_Mutation	SNP	G	A	A	rs147504195		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:48878954G>A	uc002piz.3	+	3	667	c.416G>A	c.(415-417)gGg>gAg	p.G139E		NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	139	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TTCCTCCTGGGGAGCAGCAGT	0.612000														49			11		0	0	0.000673444	0	0
MCF2L2	23101	broad.mit.edu	37	3	183056698	183056698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:183056698G>A	uc003fli.1	-	4	466	c.376C>T	c.(376-378)Cca>Tca	p.P126S	MCF2L2_uc003flj.1_Missense_Mutation_p.P126S|MCF2L2_uc003flp.1_Missense_Mutation_p.P161S	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	126	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AAGTTTCCTGGAAATGCCACC	0.418000														41			13		0	0	0.000308642	0	0
MOXD1	26002	broad.mit.edu	37	6	132636902	132636902	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:132636902G>A	uc003qdf.3	-	9	1479	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	MOXD1_uc003qde.3_Silent_p.T392T	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	460					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TTTCACTCCTGGTGCTTAGTC	0.358000														82			37		0	0	0.000319135	0	0
CPS1	1373	broad.mit.edu	37	2	211473190	211473190	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:211473190G>A	uc010fur.3	+	19	2398	c.2316G>A	c.(2314-2316)ctG>ctA	p.L772L	CPS1_uc002vee.4_Silent_p.L766L|CPS1_uc010fus.3_Silent_p.L315L	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	766					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AACCTAGCCTGGATTACATGG	0.468000														34			8		0	0	0.000274275	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552086	178552086	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:178552086T>G	uc003mjw.3	-	18	2948	c.2846A>C	c.(2845-2847)aAc>aCc	p.N949T		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	949	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGGGTGGTGTTGTCGTGTAG	0.697000														60			4		0	0	0.000602214	0	0
GET4	51608	broad.mit.edu	37	7	925732	925732	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:925732C>T	uc003sjl.1	+	1	287	c.195C>T	c.(193-195)ctC>ctT	p.L65L	GET4_uc003sjj.1_Non-coding_Transcript	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	Homo sapiens golgi to ER traffic protein 4 homolog (S. cerevisiae) (GET4), mRNA.	65					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGGGAGCTCATGTACTCGG	0.652000														27			11		0	0	0.00010058	0	0
ZNF394	84124	broad.mit.edu	37	7	99097265	99097265	+	Missense_Mutation	SNP	G	A	A	rs143330361		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:99097265G>A	uc003uqs.3	-	0	613	c.452C>T	c.(451-453)tCc>tTc	p.S151F	ZNF394_uc003uqt.3_5'UTR|ZNF394_uc003uqu.1_Missense_Mutation_p.S151F	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	Homo sapiens zinc finger protein 394 (ZNF394), mRNA.	151					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTCACCTGGGATGAGGTTCC	0.592000														98			23		0	0	0.000878237	0	0
SPTAN1	6709	broad.mit.edu	37	9	131344997	131344997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:131344997C>T	uc004bvl.4	+	13	1817	c.1675C>T	c.(1675-1677)Cac>Tac	p.H559Y	SPTAN1_uc011mbg.2_Missense_Mutation_p.H559Y|SPTAN1_uc011mbh.2_Missense_Mutation_p.H571Y|SPTAN1_uc004bvm.4_Missense_Mutation_p.H559Y|SPTAN1_uc004bvn.4_Missense_Mutation_p.H559Y	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	559					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.H559H(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAATGCCCTTCACGAGAGAGC	0.517000														48			16		0	0	0.000308642	0	0
KIAA1033	23325	broad.mit.edu	37	12	105520090	105520090	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:105520090C>T	uc010swr.2	+	11	1075	c.988C>T	c.(988-990)Cga>Tga	p.R330*	KIAA1033_uc001tld.3_Nonsense_Mutation_p.R330*|KIAA1033_uc010sws.2_Nonsense_Mutation_p.R142*	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	330					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TCAGATTTTTCGAACTATTGA	0.299000														88			33		0	0	0.000409698	0	0
KIAA0240	23506	broad.mit.edu	37	6	42797269	42797269	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:42797269C>T	uc003osn.1	+	5	1349	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	KIAA0240_uc003osm.1_Nonsense_Mutation_p.Q400*|KIAA0240_uc011duw.1_Nonsense_Mutation_p.Q400*|KIAA0240_uc003oso.1_Nonsense_Mutation_p.Q400*|KIAA0240_uc003osp.1_Nonsense_Mutation_p.Q400*	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	400										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			ACCCCAAAGTCAGTTCCTTAT	0.498000														187			76		0	0	0.000781405	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686256	108686256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:108686256C>T	uc009zuw.3	-	2	675	c.484G>A	c.(484-486)Gtc>Atc	p.V162I	CMKLR1_uc001tmw.3_Missense_Mutation_p.V162I|CMKLR1_uc001tmv.3_Missense_Mutation_p.V160I|CMKLR1_uc009zuv.3_Missense_Mutation_p.V162I|CMKLR1_uc021rdj.1_Missense_Mutation_p.V160I	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	162					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ACCCAGATGACCATGCAGGCC	0.562000														49			18		0	0	0.000229342	0	0
CLCNKA	1187	broad.mit.edu	37	1	16374459	16374459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:16374459G>A	uc001axx.4	+	4	554	c.418G>A	c.(418-420)Gat>Aat	p.D140N	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	140					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGACTACCTGGATATCAAGAA	0.617000														55			9		0	0	6.40141e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	41306544	41306544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:41306544G>A	uc002xkg.3	-	6	1299	c.1115C>T	c.(1114-1116)cCg>cTg	p.P372L	PTPRT_uc010ggj.3_Missense_Mutation_p.P372L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	372	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.G371V(1)|p.P372T(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGCCCTGGCGGTCCCGTACC	0.542000														37			13		0	0	0.000151284	0	0
SHC3	53358	broad.mit.edu	37	9	91653172	91653172	+	Silent	SNP	G	A	A	rs71904677		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:91653172G>A	uc004aqf.2	-	10	1699	c.1392C>T	c.(1390-1392)ccC>ccT	p.P464P		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	464	CH1.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CGGGCCCCAAGGGCTGGTTCT	0.478000														49			7		0	0	8.12818e-05	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864685	22864685	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:22864685G>A	uc003xcp.2	+	6	1276	c.993G>A	c.(991-993)tcG>tcA	p.S331S	RHOBTB2_uc011kzp.1_Silent_p.S316S|RHOBTB2_uc003xcq.2_Silent_p.S309S|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	309	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGGGCCCCTCGGAGCCAGGGG	0.617000														37			14		0	0	0.000219431	0	0
C1orf194	127003	broad.mit.edu	37	1	109649634	109649634	+	Silent	SNP	G	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:109649634G>T	uc009wev.3	-	2	377	c.309C>A	c.(307-309)acC>acA	p.T103T	C1orf194_uc001dwp.4_Intron|C1orf194_uc009wew.3_Silent_p.T91T	NM_001122961	NP_001116433	Q5T5A4	CA194_HUMAN	Homo sapiens chromosome 1 open reading frame 194 (C1orf194), mRNA.	103										large_intestine(2)|lung(2)|ovary(2)	6						CTTACCTATAGGTATCCTGCG	0.448000														77			6		8.12818e-05	0.000917727	8.12818e-05	1	0
ZNF365	22891	broad.mit.edu	37	10	64136580	64136580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:64136580G>A	uc001jmc.2	+	1	943	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	ZNF365_uc001jly.4_Missense_Mutation_p.E225K|ZNF365_uc001jmb.4_Missense_Mutation_p.E210K|ZNF365_uc001jlz.4_Missense_Mutation_p.E210K|ZNF365_uc001jma.4_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAAAAAGCAGGAAGTTCAGAG	0.507000														96			21		0	0	0.000375601	0	0
WDR52	55779	broad.mit.edu	37	3	113138963	113138963	+	Silent	SNP	G	A	A	rs138006295	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:113138963G>A	uc003ead.2	-	4	538	c.471C>T	c.(469-471)gcC>gcT	p.A157A	WDR52_uc003eae.2_Silent_p.A157A	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	157								p.A157T(2)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTATGTATATGGCGATACTGT	0.433000														28			5		0	0	0.000602214	0	0
PLCB4	5332	broad.mit.edu	37	20	9319562	9319562	+	Missense_Mutation	SNP	C	G	G	rs139867288		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:9319562C>G	uc021wam.1	+	3	262	c.247C>G	c.(247-249)Ctt>Gtt	p.L83V	PLCB4_uc010gbw.1_Missense_Mutation_p.L83V|PLCB4_uc010gbx.3_Missense_Mutation_p.L83V|PLCB4_uc021wal.1_Missense_Mutation_p.L83V	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	83					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.L83P(1)		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						CTTGGCTGCTCTTGAAGCTGT	0.408000														65			6		0	0	8.12818e-05	0	0
NCF4	4689	broad.mit.edu	37	22	37271803	37271803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:37271803G>A	uc003apy.4	+	7	920	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	NCF4_uc003apz.4_Missense_Mutation_p.E246K	NM_000631	NP_000622	Q15080	NCF4_HUMAN	Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA.	246					cell communication|immune response|oxidation-reduction process	NADPH oxidase complex|cytosol	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTACTACTACGAAGACACCAT	0.597000														85			24		0	0	0.000375601	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878935	131878935	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:131878935G>A	uc003vra.4	-	13	2971	c.2742C>T	c.(2740-2742)atC>atT	p.I914I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	914	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCTCACACACGATCCTGCAGG	0.607000														54			14		0	0	0.000308642	0	0
IL17A	3605	broad.mit.edu	37	6	52053993	52053993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:52053993G>A	uc003pak.1	+	2	416	c.371G>A	c.(370-372)aGg>aAg	p.R124K		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	124					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					GTCCTGCGCAGGGAGCCTCCA	0.597000														31			14		0	0	0.00074312	0	0
IDH1	3417	broad.mit.edu	37	2	209116254	209116254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:209116254C>T	uc002vcs.3	-	2	268	c.22G>A	c.(22-24)Ggt>Agt	p.G8S	IDH1_uc002vct.3_Missense_Mutation_p.G8S|IDH1_uc002vcu.3_Missense_Mutation_p.G8S	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	8					2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ACCACAGAACCGCCACTGATT	0.313000			Mis		gliobastoma									82			8		0	0	0.000274275	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092619	151092619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:151092619G>A	uc022cgv.1	+	0	483	c.483G>A	c.(481-483)atG>atA	p.M161I	MAGEA4_uc004fez.3_Missense_Mutation_p.M161I|MAGEA4_uc004ffa.3_Missense_Mutation_p.M161I|MAGEA4_uc004ffb.3_Missense_Mutation_p.M161I|MAGEA4_uc022cgu.1_Missense_Mutation_p.M189I|MAGEA4_uc004ffc.3_Missense_Mutation_p.M161I|MAGEA4_uc004ffd.3_Missense_Mutation_p.M161I	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	161	MAGE.						protein binding	p.K160N(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGAAGATGATCTTTGGCA	0.517000														37			26		0	0	0.000147802	0	0
UNC13C	440279	broad.mit.edu	37	15	54305845	54305845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:54305845G>A	uc021smr.1	+	0	745	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	UNC13C_uc021sms.1_Missense_Mutation_p.E249K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	249					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)		GATCTTTAAGGAACTTCAGGG	0.468000														49			16		0	0	9.7654e-05	0	0
TP53	7157	broad.mit.edu	37	17	7574003	7574004	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:7574003_7574004GG>AA	uc002gim.2	-	9	1217_1218	c.1023_1024CC>TT	c.(1021-1026)ttccga>ttTTga	p.R342*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(132)|p.R342fs*3(20)|p.0?(8)|p.R342P(3)|p.R342_N345delRELN(2)|p.R342Q(2)|p.?(1)|p.F341fs*4(1)|p.F341C(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGCTCTCGGAACATCTCGA	0.554000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				22			5		0	0	6.4e-05	0	0
ZNF782	158431	broad.mit.edu	37	9	99589443	99589443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:99589443C>T	uc004awp.1	-	4	444	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	ZNF782_uc011lup.1_5'UTR	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				AAGATCAGTTCTGGTTTTGTA	0.383000														32			9		0	0	0.000442599	0	0
RANBP2	5903	broad.mit.edu	37	2	109384184	109384184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:109384184G>A	uc002tem.4	+	19	7315	c.7189G>A	c.(7189-7191)Ggg>Agg	p.G2397R		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2397	RanBD1 3.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAATATGAAAGGGACAGAAAG	0.373000														571			31		0	0	0.000692331	0	0
ETV1	2115	broad.mit.edu	37	7	13946092	13946092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:13946092C>T	uc021zzz.1	-	9	1160	c.1073G>A	c.(1072-1074)gGt>gAt	p.G358D	ETV1_uc021zzt.1_Missense_Mutation_p.G318D|ETV1_uc021zzu.1_Missense_Mutation_p.G255D|ETV1_uc021zzv.1_Missense_Mutation_p.G300D|ETV1_uc021zzw.1_3'UTR|ETV1_uc021zzx.1_3'UTR|ETV1_uc021zzy.1_3'UTR|ETV1_uc022aaa.1_Missense_Mutation_p.G340D|ETV1_uc022aab.1_3'UTR|ETV1_uc003ssw.4_Missense_Mutation_p.G335D|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_3'UTR|ETV1_uc022aad.1_3'UTR|ETV1_uc010ktv.3_3'UTR	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	358					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CATGCCTCGACCAGTCCAGGC	0.408000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									20			7		0	0	0.000274275	0	0
KPNA5	3841	broad.mit.edu	37	6	117047683	117047683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:117047683C>T	uc003pxh.3	+	11	1282	c.1151C>T	c.(1150-1152)cCt>cTt	p.P384L		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	381	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	p.P384S(1)		breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AATATTTTTCCTGTTTTGATT	0.338000														97			22		0	0	0.000586117	0	0
DEM1	64789	broad.mit.edu	37	1	40980715	40980715	+	Missense_Mutation	SNP	C	T	T	rs145571905	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:40980715C>T	uc001cfp.3	+	2	704	c.499C>T	c.(499-501)Cca>Tca	p.P167S	DEM1_uc001cfq.3_Missense_Mutation_p.P167S|DEM1_uc001cfr.3_Missense_Mutation_p.P167S|DEM1_uc021omb.1_Missense_Mutation_p.P167S	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	167							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						CAGAGAGTTTCCAGTGTTTGG	0.493000														44			16		0	0	0.000132079	0	0
KCNIP4	80333	broad.mit.edu	37	4	20852196	20852196	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:20852196C>T	uc021xmt.1	-	2	378	c.258G>A	c.(256-258)gaG>gaA	p.E86E	KCNIP4_uc003gqe.2_Silent_p.E69E|KCNIP4_uc003gqf.1_Silent_p.E65E|KCNIP4_uc003gqg.1_Silent_p.E24E|KCNIP4_uc003gqh.1_Silent_p.E61E|KCNIP4_uc003gqi.1_Silent_p.E24E|KCNIP4_uc021xmu.1_Silent_p.E52E|KCNIP4_uc021xms.1_Silent_p.E49E	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	86	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GGATCTGAAGCTCTTTCTTGG	0.458000														58			16		0	0	0.000566183	0	0
ENG	2022	broad.mit.edu	37	9	130580444	130580444	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:130580444G>A	uc004bsj.4	-	11	2054	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	ENG_uc011mam.2_Silent_p.L358L|ENG_uc004bsk.4_Silent_p.L547L|AK057719_uc004bsl.1_Intron	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	547	Ser/Thr-rich.				BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CCGTGCAGCTGAGGGTGCCGG	0.637000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia					28			7		0	0	0.000157383	0	0
METTL18	92342	broad.mit.edu	37	1	169762604	169762604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:169762604G>A	uc001ggn.3	-	1	511	c.233C>T	c.(232-234)cCa>cTa	p.P78L	C1orf112_uc001ggj.3_Intron|METTL18_uc021pen.1_Missense_Mutation_p.P78L|C1orf112_uc001ggo.3_5'Flank|C1orf112_uc010plt.1_5'Flank|C1orf112_uc001ggp.3_5'Flank|C1orf112_uc001ggq.3_5'Flank|C1orf112_uc009wvt.3_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	Homo sapiens methyltransferase like 18 (METTL18), mRNA.	78						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						TGCACTGAGTGGACTGTCTGT	0.463000														34			12		0	0	0.000151284	0	0
LRRTM4	80059	broad.mit.edu	37	2	76976028	76976028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:76976028C>T	uc002snr.3	-	3	1981	c.1566G>A	c.(1564-1566)atG>atA	p.M522I	LRRTM4_uc002snq.3_Missense_Mutation_p.M522I	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	522						integral to membrane		p.M522I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCAAGGGCTTCATGTGGTGTG	0.468000														21			5		0	0	8.12818e-05	0	0
SLC26A5	375611	broad.mit.edu	37	7	103029778	103029778	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:103029778G>A	uc003vbz.3	-	12	1667	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L	SLC26A5_uc003vbt.2_Silent_p.L469L|SLC26A5_uc003vbu.2_Silent_p.L469L|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Intron|SLC26A5_uc010liy.3_Intron|SLC26A5_uc003vbx.3_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	469					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTACTTACCAGCTCTATTTTG	0.393000														57			21		0	0	0.000375601	0	0
NAT2	10	broad.mit.edu	37	8	18257721	18257721	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:18257721C>T	uc022asl.1	+	0	208	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	NAT2_uc003wyw.1_Nonsense_Mutation_p.Q70*	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	70					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GTGGTGTCTCCAGGTCAATCA	0.453000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					65			15		0	0	0.000422831	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409284	4409284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:4409284C>T	uc002mal.3	+	2	588	c.488C>T	c.(487-489)gCc>gTc	p.A163V		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	163	Binds to CBX1 chromo shadow domain.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTTGAAGGCCATTCAGAAC	0.517000								Chromatin Structure						76			27		0	0	0.000878237	0	0
FPR1	2357	broad.mit.edu	37	19	52249583	52249583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:52249583C>T	uc021uyn.1	-	2	811	c.665G>A	c.(664-666)gGg>gAg	p.G222E	FPR1_uc002pxq.3_Missense_Mutation_p.G222E|FPR1_uc021uyo.1_Missense_Mutation_p.G222E	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	222					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGCAATAAGCCCATAACTGAC	0.522000														51			19		0	0	9.7654e-05	0	0
CDH6	1004	broad.mit.edu	37	5	31299667	31299667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:31299667G>A	uc003jhe.2	+	4	1100	c.740G>A	c.(739-741)gGa>gAa	p.G247E	CDH6_uc003jhd.2_Missense_Mutation_p.G247E	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	247	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGATGGGAGGATTATCTGGG	0.478000														47			16		0	0	0.000308642	0	0
MMP1	4312	broad.mit.edu	37	11	102663421	102663421	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:102663421G>A	uc001phi.2	-	6	1091	c.948C>T	c.(946-948)ttC>ttT	p.F316F	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.F250F	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	316	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		AAACAGAAATGAAATTGAGCT	0.393000														59			15		0	0	0.000422831	0	0
CACNA2D1	781	broad.mit.edu	37	7	81591790	81591790	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:81591790G>A	uc003uhr.1	-	34	3058	c.2802C>T	c.(2800-2802)ctC>ctT	p.L934L	CACNA2D1_uc011kgy.1_Silent_p.L146L	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	946						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCAAACTCAAGAGAAACTGCT	0.333000														21			5		0	0	3.59834e-05	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072012	17072012	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:17072012G>A	uc002zlp.1	-	0	1689	c.1429C>T	c.(1429-1431)Cta>Tta	p.L477L		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	477					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACACCCATTAGGAGGTTCCCA	0.512000														96			21		0	0	0.000229342	0	0
HAS1	3036	broad.mit.edu	37	19	52220364	52220364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:52220364G>A	uc002pxn.1	-	1	819	c.806C>T	c.(805-807)gCt>gTt	p.A269V	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.A227V|HAS1_uc002pxo.1_Missense_Mutation_p.A262V|HAS1_uc002pxp.1_Missense_Mutation_p.A261V	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	262					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCCACCAACAGCCCCTACCCG	0.617000														40			6		0	0	0.000157383	0	0
LRRC7	57554	broad.mit.edu	37	1	70518723	70518723	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:70518723A>C	uc001dep.3	+	20	4041	c.4011A>C	c.(4009-4011)caA>caC	p.Q1337H	LRRC7_uc009wbg.3_Missense_Mutation_p.Q621H|LRRC7_uc001deq.3_Missense_Mutation_p.Q531H	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1337						centrosome|focal adhesion|nucleolus	protein binding	p.Q1337E(1)		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						CGTCCCAGCAAAGCAACATTT	0.423000														53			7		0	0	0.000157383	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442014	20442014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:20442014C>T	uc001bcz.3	-	2	295	c.278G>A	c.(277-279)gGg>gAg	p.G93E	PLA2G2D_uc009vpo.3_Intron	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA.	93					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGATGTTCCCCTGGGAAAA	0.567000										Multiple Myeloma(11;0.12)				20			8		0	0	0.000442599	0	0
NLRP4	147945	broad.mit.edu	37	19	56369223	56369223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:56369223G>A	uc002qmd.4	+	2	886	c.464G>A	c.(463-465)gGa>gAa	p.G155E	NLRP4_uc002qmf.3_Missense_Mutation_p.G80E|NLRP4_uc010etf.3_5'UTR	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	155	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATCATTCAAGGACCACAAGGA	0.468000														80			31		0	0	0.000409698	0	0
AP1M1	8907	broad.mit.edu	37	19	16338471	16338471	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:16338471C>T	uc002ndv.2	+	7	995	c.822C>T	c.(820-822)ttC>ttT	p.F274F	AP1M1_uc002ndu.2_Silent_p.F262F|AP1M1_uc010xpd.1_Silent_p.F262F	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	262	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						ACGGCGAGTTCGAGCTCATGT	0.612000														128			38		0	0	0.000589545	0	0
TOX2	84969	broad.mit.edu	37	20	42683020	42683020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:42683020G>A	uc010ggo.3	+	4	773	c.733G>A	c.(733-735)Gag>Aag	p.E245K	TOX2_uc002xle.4_Missense_Mutation_p.E203K|TOX2_uc010ggp.3_Missense_Mutation_p.E203K|TOX2_uc002xlf.4_Missense_Mutation_p.E254K|TOX2_uc010zwk.2_Missense_Mutation_p.E123K	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	254	Poly-Lys.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L245L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGACCCCAATGAGCCGCAGAA	0.547000														16			5		0	0	0.000602214	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540369	96540369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:96540369G>A	uc010qnz.2	+	3	595	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	CYP2C19_uc009xus.1_Missense_Mutation_p.E64K|CYP2C19_uc010qny.2_Missense_Mutation_p.E177K	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	199					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TAACTTGATGGAAAAATTGAA	0.408000														73			27		0	0	0.000184323	0	0
RIMS2	9699	broad.mit.edu	37	8	105260938	105260938	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:105260938C>T	uc003yls.3	+	24	3781	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	RIMS2_uc003ylp.3_Silent_p.F1162F|RIMS2_uc003ylw.2_Silent_p.F1169F|RIMS2_uc003ylq.3_Silent_p.F976F|RIMS2_uc003ylr.3_Silent_p.F1001F	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1224					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTCTGATTTTCCCTGGTGTTC	0.463000										HNSCC(12;0.0054)				60			18		0	0	9.7654e-05	0	0
CCNB3	85417	broad.mit.edu	37	X	50053237	50053237	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:50053237T>C	uc004dox.4	+	5	2366	c.2068T>C	c.(2068-2070)Ttc>Ctc	p.F690L	CCNB3_uc004doy.3_Missense_Mutation_p.F690L|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	690					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)					TGGGTCCCTCTTCCAGGAGGC	0.463000														7			4		0	0	0.00024832	0	0
POLD1	5424	broad.mit.edu	37	19	50905595	50905595	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:50905595C>T	uc010eny.3	+	4	724	c.723C>T	c.(721-723)ttC>ttT	p.F241F	POLD1_uc002psb.4_Silent_p.F241F|POLD1_uc002psc.4_Silent_p.F241F|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	241					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding	p.F241F(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGCCCAGCTTCGCGCCCTACG	0.701000								DNA polymerases (catalytic subunits)						33			9		0	0	6.40141e-05	0	0
POMGNT1	55624	broad.mit.edu	37	1	46659580	46659580	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:46659580G>A	uc001cpg.3	-	9	1548	c.897C>T	c.(895-897)gtC>gtT	p.V299V	POMGNT1_uc010olx.2_Silent_p.V277V|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_Silent_p.V156V|POMGNT1_uc001cpe.3_Silent_p.V299V|POMGNT1_uc001cpf.3_5'UTR|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_5'UTR	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	299					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GCACATTGAGGACCTTGTTGT	0.532000														24			5		0	0	0.000157383	0	0
DNAH10	196385	broad.mit.edu	37	12	124352501	124352501	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:124352501G>C	uc001uft.4	+	41	7025	c.7000G>C	c.(7000-7002)Gac>Cac	p.D2334H		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2334					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAAATAGAAGACCTTGACCT	0.483000														21			4		0	0	0.000602214	0	0
MLF1	4291	broad.mit.edu	37	3	158310307	158310307	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:158310307C>T	uc003fcc.3	+	2	543	c.180C>T	c.(178-180)atC>atT	p.I60I	MLF1_uc003fbx.3_Silent_p.I19I|MLF1_uc003fbz.3_Silent_p.I19I|MLF1_uc003fca.3_Silent_p.I19I|MLF1_uc003fcb.3_Silent_p.I44I|MLF1_uc010hvx.3_Silent_p.I19I|MLF1_uc003fby.3_5'UTR	NM_001195432	NP_001182361	P58340	MLF1_HUMAN	Homo sapiens myeloid leukemia factor 1 (MLF1), transcript variant 4, mRNA.	44	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TGCTCAGTATCTCTGATGGTA	0.388000			T	NPM1	AML									49			9		0	0	0.000274275	0	0
DNAH12	201625	broad.mit.edu	37	3	57494241	57494241	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:57494241T>G	uc003dit.2	-	6	750	c.569A>C	c.(568-570)cAt>cCt	p.H190P	DNAH12_uc003diu.2_Missense_Mutation_p.H190P	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	190	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ATAGCTAGAATGCCAAGGATT	0.328000														31			10		0	0	6.40141e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9066158	9066158	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:9066158G>A	uc002mkp.3	-	2	21492	c.21288C>T	c.(21286-21288)ctC>ctT	p.L7096L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7098	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						GCAGGGAAGGGAGAGAGCTGG	0.512000														41			8		0	0	0.000274275	0	0
IRF2	3660	broad.mit.edu	37	4	185320087	185320087	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:185320087G>C	uc003iwf.4	-	6	876	c.676C>G	c.(676-678)Ccc>Gcc	p.P226A		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	226					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GAAGACACGGGGGAGATCTGC	0.617000														46			4		0	0	0.000602214	0	0
GLI2	2736	broad.mit.edu	37	2	121748185	121748185	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:121748185C>T	uc010flp.3	+	12	4725	c.4695C>T	c.(4693-4695)gtC>gtT	p.V1565V	GLI2_uc002tmq.1_Missense_Mutation_p.S827L|GLI2_uc002tmr.1_Missense_Mutation_p.S810L|GLI2_uc002tmt.4_Silent_p.V1237V|GLI2_uc002tmu.4_Silent_p.V1220V	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1565					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACATGGCTGTCGGGGACATGA	0.642000														53			9		0	0	0.000274275	0	0
C12orf42	374470	broad.mit.edu	37	12	103795449	103795449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:103795449G>A	uc001tjt.2	-	2	171	c.83C>T	c.(82-84)tCc>tTc	p.S28F	C12orf42_uc001tjs.3_Non-coding_Transcript|C12orf42_uc009zuf.1_Missense_Mutation_p.S28F|C12orf42_uc001tju.2_5'UTR	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	28								p.S28S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ATAGCAAGGGGATTTCTGAAA	0.433000														26			8		0	0	6.40141e-05	0	0
TNR	7143	broad.mit.edu	37	1	175355287	175355287	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:175355287T>G	uc001gkp.1	-	5	1739	c.1658A>C	c.(1657-1659)cAg>cCg	p.Q553P	TNR_uc009wwu.1_Missense_Mutation_p.Q553P	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	553	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGGGGAGGCTGCAGCCGGAA	0.602000														27			4		0	0	0.000602214	0	0
SGSM1	129049	broad.mit.edu	37	22	25243686	25243686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:25243686G>A	uc003abg.2	+	3	382	c.225G>A	c.(223-225)atG>atA	p.M75I	SGSM1_uc010guu.1_Missense_Mutation_p.M75I|SGSM1_uc003abh.2_Missense_Mutation_p.M75I|SGSM1_uc003abj.2_Missense_Mutation_p.M75I|SGSM1_uc003abi.1_Missense_Mutation_p.M50I|SGSM1_uc003abf.2_Missense_Mutation_p.M75I	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	75	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						CCCTCTTTATGAAAGTGGGCA	0.622000														24			7		0	0	0.000157383	0	0
C13orf35	400165	broad.mit.edu	37	13	113333799	113333799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr13:113333799G>A	uc001vsh.1	+	1	864	c.106G>A	c.(106-108)Gac>Aac	p.D36N		NM_207440	NP_997323	Q6ZP68	CM035_HUMAN	Homo sapiens chromosome 13 open reading frame 35 (C13orf35), mRNA.	36								p.D36Y(2)		breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			CCTGAAGATGGACCCGGCAGG	0.617000														15			7		0	0	8.12818e-05	0	0
TTN	7273	broad.mit.edu	37	2	179582406	179582406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:179582406G>A	uc021vsy.1	-	83	21688	c.21463C>T	c.(21463-21465)Ctt>Ttt	p.L7155F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3816F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8082	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E7155E(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)			TCTTTCAAAAGAACCCCATCC	0.413000														25			5		0	0	8.12818e-05	0	0
TCF7L1	83439	broad.mit.edu	37	2	85534770	85534770	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:85534770G>A	uc002soy.3	+	10	1488	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	421					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						TCCAGGGTAAGAAAAAGAAGA	0.542000														24			6		0	0	3.59834e-05	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911876	158911876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:158911876C>T	uc001ftb.3	+	4	939	c.689C>T	c.(688-690)tCc>tTc	p.S230F	PYHIN1_uc001ftc.3_Missense_Mutation_p.S221F|PYHIN1_uc001ftd.3_Missense_Mutation_p.S230F|PYHIN1_uc001fte.3_Missense_Mutation_p.S221F	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	230	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAATATGAATCCTCAGAAAAT	0.383000														49			14		0	0	0.000151284	0	0
TBC1D19	55296	broad.mit.edu	37	4	26638892	26638892	+	Silent	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:26638892C>T	uc003gsf.4	+	4	624	c.354C>T	c.(352-354)atC>atT	p.I118I	TBC1D19_uc010iew.3_Silent_p.I118I|TBC1D19_uc011bxu.2_Silent_p.I53I	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	118						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AACTGAGTATCCCACTGGCAC	0.303000														54			16		0	0	0.00074312	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41039656	41039656	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:41039656C>T	uc003jmj.4	-	20	2444	c.1954_splice	c.e20-1	p.G652_splice	HEATR7B2_uc003jmi.4_Splice_Site_p.G207_splice	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	652							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGATGTTATTCCCTAAAATCA	0.308000														27			5		0	0	0.000602214	0	0
C1orf85	112770	broad.mit.edu	37	1	156262907	156262907	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:156262907G>A	uc001foh.3	-	5	1162	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	C1orf85_uc001fof.4_5'Flank	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA.	383					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					CTAGCAGCATGAGCCCTGGGG	0.597000														44			6		0	0	0.000157383	0	0
FSD1	79187	broad.mit.edu	37	19	4311957	4311957	+	Silent	SNP	G	A	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:4311957G>A	uc002lzy.2	+	6	762	c.609G>A	c.(607-609)cgG>cgA	p.R203R	FSD1_uc002maa.2_Silent_p.R16R	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	203	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGTACCGGCGGACCAACT	0.622000														16			9		0	0	0.000442599	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846520	228846520	+	Silent	SNP	G	A	A	rs61752219		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:228846520G>A	uc002vpq.2	-	11	5063	c.5016C>T	c.(5014-5016)ttC>ttT	p.F1672F	SPHKAP_uc002vpp.2_Silent_p.F1643F|SPHKAP_uc010zlx.1_3'UTR	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1672						cytoplasm	protein binding	p.E1671*(1)|p.E1671Q(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAACTGCATGGAAGATATCAC	0.483000														42			13		0	0	0.000219431	0	0
NRXN3	9369	broad.mit.edu	37	14	79181466	79181466	+	Silent	SNP	A	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:79181466A>G	uc001xun.3	+	4	1400	c.909A>G	c.(907-909)ggA>ggG	p.G303G	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.G437G	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GATACTGGGGAAGAACCTGCG	0.592000														28			5		0	0	3.59834e-05	0	0
COL4A4	1286	broad.mit.edu	37	2	227906900	227906900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:227906900C>T	uc021vxr.1	-	35	3570	c.3469G>A	c.(3469-3471)Ggg>Agg	p.G1157R	COL4A4_uc021vxs.1_Missense_Mutation_p.G1157R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1157	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)		CCTGGATCCCCCTGGAGGCCT	0.547000														45			16		0	0	9.7654e-05	0	0
LOC729264	729264	broad.mit.edu	37	16	32264971	32264971	+	Silent	SNP	T	C	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:32264971T>C	uc021tgy.1	+	0	322	c.297T>C	c.(295-297)agT>agC	p.S99S	LOC729264_uc002ecy.3_Non-coding_Transcript	NM_001243722	NP_001230651	Q9ULZ0	T53G3_HUMAN	Homo sapiens TP53-target gene 3 protein-like (LOC729264), mRNA.	99						cytoplasm|nucleus											ATGTTCGAAGTTTGATACCTT	0.562000														52			6		0	0	6.40141e-05	0	0
MYO1B	4430	broad.mit.edu	37	2	192279255	192279256	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:192279255_192279256insT	uc010fsg.2	+	28	3274_3275	c.3019_3020insT	c.(3019-3021)attfs	p.I1007fs	MYO1B_uc002usq.2_Frame_Shift_Ins_p.I949fs|MYO1B_uc002usr.2_Frame_Shift_Ins_p.I1007fs|MYO1B_uc002usu.2_Frame_Shift_Ins_p.I252fs	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	1007						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TACATCTCGGATTTTCCTCTTA	0.342													---	46	---	---	7	---					
SOWAHA	134548	broad.mit.edu	37	5	132150701	132150701	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:132150701delG	uc003kxw.3	+	0	1669	c.1388delG	c.(1387-1389)cgcfs	p.R463fs		NM_175873	NP_787069	Q2M3V2	ANR43_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member A (SOWAHA), mRNA.	463																	GCTGCCAGGCGCCCCGTACAG	0.667													---	4	---	---	2	---					
ING3	54556	broad.mit.edu	37	7	120613283	120613284	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:120613283_120613284insG	uc003vjn.3	+	10	1260_1261	c.1126_1127insG	c.(1126-1128)tgtfs	p.C376fs	ING3_uc003vjo.3_Frame_Shift_Ins_p.C150fs|ING3_uc003vjp.3_3'UTR|ING3_uc011kns.2_Frame_Shift_Ins_p.C361fs	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.	376					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					GATGGTGGGATGTGATAACCAA	0.282													---	126	---	---	28	---					
ZFX	7543	broad.mit.edu	37	X	24229150	24229151	+	Frame_Shift_Ins	INS	-	TAGA	TAGA			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:24229150_24229151insTAGA	uc011mjv.2	+	9	2441_2442	c.2192_2193insTAGA	c.(2191-2193)tgtfs	p.C731fs	ZFX_uc004dbd.2_Frame_Shift_Ins_p.C692fs|ZFX_uc004dbf.3_Frame_Shift_Ins_p.C692fs|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Frame_Shift_Ins_p.C692fs|ZFX_uc010nfx.2_Frame_Shift_Ins_p.C463fs|ZFX_uc010nfz.3_Frame_Shift_Ins_p.C348fs	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ATGCACCAGTGTAGACATTGTG	0.431													---	48	---	---	27	---					
FRMD8P1	83957	broad.mit.edu	37	X	64771948	64771948	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:64771948delG	uc022bye.1	-	0	354	c.225delC	c.(223-225)ttcfs	p.F75fs						Homo sapiens FERM domain containing 8 pseudogene 1 (FRMD8P1), non-coding RNA.																		GCCAGAGCGCGAAGACATCCA	0.657													---	4	---	---	2	---