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
CSMD1	64478	broad.mit.edu	37	8	3076863	3076863	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:3076863C>T	uc022aqr.1	-	28	4976	c.4586G>A	c.(4585-4587)aGa>aAa	p.R1529K	CSMD1_uc011kwj.2_Missense_Mutation_p.R922K|CSMD1_uc003wqe.3_Missense_Mutation_p.R686K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1530	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCTCTATTCTTTCTGGGGC	0.507000														4			3		0	0	0.004672	0	0
PEX5	5830	broad.mit.edu	37	12	7343061	7343061	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:7343061C>T	uc009zfu.2	+	2	668	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	PEX5_uc001qsw.3_Missense_Mutation_p.L30F|PEX5_uc010sgc.2_Missense_Mutation_p.L30F|PEX5_uc001qsu.3_Missense_Mutation_p.L30F|PEX5_uc010sgd.2_Missense_Mutation_p.L51F|PEX5_uc001qsv.3_Missense_Mutation_p.L30F	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	30					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GGACAAGGCCCTTCGGCAGGA	0.677000														44			6		0	0	0.001984	0	0
OR5M11	219487	broad.mit.edu	37	11	56309817	56309817	+	Splice_Site	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:56309817C>T	uc010rjl.2	-	1	918	c.918_splice	c.e1+1	p.*306_splice	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GACAATATTTCATCTCAGGAC	0.383000														26			3		0	0	0.009096	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128629	126128629	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:126128629A>G	uc001uhe.1	+	5	1438	c.1430A>G	c.(1429-1431)aAc>aGc	p.N477S	TMEM132B_uc001uhf.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	477						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)		AAGGTTTCCAACAACTGTGAT	0.448000														24			8		0	0	0.004482	0	0
REPS2	9185	broad.mit.edu	37	X	17040294	17040294	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:17040294G>A	uc004cxv.1	+	2	617	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	REPS2_uc004cxw.1_Missense_Mutation_p.R149Q|REPS2_uc011miw.1_Missense_Mutation_p.R9Q	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	149					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GGTGAGATACGATTTGGGAAC	0.393000														95			18		0	0	0.007413	0	0
PRRC2A	7916	broad.mit.edu	37	6	31596995	31596995	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:31596995C>T	uc003nvb.4	+	12	2089	c.1840C>T	c.(1840-1842)Cca>Tca	p.P614S	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P614S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	614	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ACCCCCAGTTCCAAAGGTGGA	0.552000														98			26		0	0	0.027356	0	0
FAM83B	222584	broad.mit.edu	37	6	54805208	54805208	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:54805208G>A	uc003pck.3	+	4	1555	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	480										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCAACAACGAATGCCAACC	0.413000														44			16		0	0	0.010504	0	0
SI	6476	broad.mit.edu	37	3	164750437	164750437	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:164750437C>T	uc003fei.3	-	23	2672	c.2609G>A	c.(2608-2610)gGa>gAa	p.G870E		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	870	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAAGGTAGTTCCTTCCTGATA	0.348000										HNSCC(35;0.089)				34			6		0	0	0.001984	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567119	173567119	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:173567119G>A	uc001giz.2	-	3	704	c.281C>T	c.(280-282)tCt>tTt	p.S94F	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	94					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TGAAAAGTAAGAATAAAGTGA	0.308000														51			6		0	0	0.021553	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424095	89424095	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:89424095G>A	uc001pda.3	+	10	1271	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	249					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAGTGTCTATGAAACATATGA	0.368000														23			8		0	0	0.006214	0	0
WDR13	64743	broad.mit.edu	37	X	48463396	48463396	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:48463396C>T	uc004dkj.2	+	8	1939	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	WDR13_uc004dkk.2_Silent_p.I386I|WDR13_uc004dkl.4_Silent_p.I386I	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN	Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.	478						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GCATGGTCATCGTCTGGAGGC	0.587000														21			4		0	0	0.014758	0	0
SLC28A3	64078	broad.mit.edu	37	9	86920249	86920249	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:86920249C>T	uc010mpz.3	-	3	400	c.254G>A	c.(253-255)aGg>aAg	p.R85K	SLC28A3_uc011lsy.2_Missense_Mutation_p.R16K|SLC28A3_uc004anu.2_Missense_Mutation_p.R85K|SLC28A3_uc010mqb.3_Missense_Mutation_p.R16K	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	85					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTCATACCTCCTTTCCAAACA	0.383000														33			5		0	0	0.001984	0	0
DCHS2	54798	broad.mit.edu	37	4	155241981	155241981	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:155241981G>A	uc003inw.2	-	13	3205	c.3205C>T	c.(3205-3207)Ccc>Tcc	p.P1069S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1069	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTCCTATGGGAACATTCTCC	0.438000														74			21		0	0	0.008871	0	0
MICAL3	57553	broad.mit.edu	37	22	18301315	18301315	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:18301315G>A	uc002zng.4	-	25	4465	c.4112C>T	c.(4111-4113)tCc>tTc	p.S1371F	MICAL3_uc011agl.2_Missense_Mutation_p.S1287F|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1371	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ATCCTGGGGGGACTTTTCAAC	0.637000														168			15		0	0	0.028581	0	0
CELA2A	63036	broad.mit.edu	37	1	15789236	15789236	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:15789236G>A	uc001awk.3	+	3	262	c.236G>A	c.(235-237)aGg>aAg	p.R79K		NM_033440	NP_254275	P08217	CEL2A_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA.	79	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						AGCTCCTCCAGGACCTACCGC	0.617000														62			18		0	0	0.007413	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935697	151935697	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:151935697G>A	uc022chl.1	-	0	470	c.470C>T	c.(469-471)tCc>tTc	p.S157F	MAGEA3_uc004fgp.3_Missense_Mutation_p.S157F	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	157	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTGCAAGGAACTGGAAGC	0.547000														84			10		0	0	0.006214	0	0
OBSCN	84033	broad.mit.edu	37	1	228444355	228444355	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:228444355C>T	uc009xez.1	+	14	4357	c.4313C>T	c.(4312-4314)cCc>cTc	p.P1438L	OBSCN_uc001hsn.3_Missense_Mutation_p.P1438L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1438	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCCAGAGCCCAAGGTGGTG	0.642000														33			4		0	0	0.009096	0	0
DNAH3	55567	broad.mit.edu	37	16	20999122	20999122	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:20999122C>T	uc010vbe.2	-	45	6775	c.6775G>A	c.(6775-6777)Gtg>Atg	p.V2259M	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2259	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGTTCTCCACTGCATCTCTA	0.502000														55			5		0	0	0.021553	0	0
ROBO1	6091	broad.mit.edu	37	3	78667013	78667013	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:78667013C>T	uc003dqe.2	-	26	4262	c.4054G>A	c.(4054-4056)Gag>Aag	p.E1352K	ROBO1_uc003dqc.2_Missense_Mutation_p.E1252K|ROBO1_uc003dqd.2_Missense_Mutation_p.E1307K|ROBO1_uc003dqb.2_Missense_Mutation_p.E1313K|ROBO1_uc010hoh.2_Missense_Mutation_p.E544K|ROBO1_uc011bgl.1_Missense_Mutation_p.E924K	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1352					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGTGTCTGCTCAAGCCCACGT	0.557000														37			7		0	0	0.008291	0	0
NPHS1	4868	broad.mit.edu	37	19	36330278	36330278	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:36330278G>A	uc002oby.3	-	21	3126	c.2970C>T	c.(2968-2970)gtC>gtT	p.V990V	NPHS1_uc010eem.1_Non-coding_Transcript	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	990	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGTGGTACGACATCCACAT	0.582000														38			14		0	0	0.020292	0	0
GPR179	440435	broad.mit.edu	37	17	36482779	36482780	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:36482779_36482780CC>TT	uc002hpz.3	-	10	6693_6694	c.6672_6673GG>AA	c.(6670-6675)tgggaa>tgAAaa	p.2224_2225WE>*K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	2224						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTGTGATTTCCCATTGGCACA	0.554000														65			11		0	0	0.004672	0	0
PLCB1	23236	broad.mit.edu	37	20	8770195	8770195	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:8770195C>T	uc002wnb.3	+	29	3312	c.3309C>T	c.(3307-3309)atC>atT	p.I1103I	PLCB1_uc002wna.3_Silent_p.I1103I	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1103					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGTCATATATCCAGGAAGTGG	0.423000														79			16		0	0	0.007413	0	0
PROX1	5629	broad.mit.edu	37	1	214171436	214171436	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:214171436G>A	uc001hkh.3	+	1	1830	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	PROX1_uc001hkg.1_Missense_Mutation_p.D520N	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	520					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTTAACTAGGGATACCACGAG	0.557000														88			10		0	0	0.013537	0	0
NFATC4	4776	broad.mit.edu	37	14	24839583	24839583	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:24839583C>T	uc001wpc.3	+	1	1300	c.979C>T	c.(979-981)Cct>Tct	p.P327S	NFATC4_uc010alr.3_Missense_Mutation_p.P390S|NFATC4_uc010tok.2_Missense_Mutation_p.P390S|NFATC4_uc010tol.2_Missense_Mutation_p.P390S|NFATC4_uc010als.2_Missense_Mutation_p.P340S|NFATC4_uc010too.2_Missense_Mutation_p.P340S|NFATC4_uc010tom.2_Missense_Mutation_p.P340S|NFATC4_uc010ton.2_Missense_Mutation_p.P340S|NFATC4_uc010toq.2_Missense_Mutation_p.P359S|NFATC4_uc010alt.3_Missense_Mutation_p.P359S|NFATC4_uc010top.2_Missense_Mutation_p.P359S|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.P327S|NFATC4_uc010tos.2_Missense_Mutation_p.P257S|NFATC4_uc010tot.2_Missense_Mutation_p.P315S|NFATC4_uc010tou.2_Missense_Mutation_p.P257S|NFATC4_uc010tov.2_Missense_Mutation_p.P315S|NFATC4_uc010tow.2_Missense_Mutation_p.P257S|NFATC4_uc010alv.3_Missense_Mutation_p.P315S|NFATC4_uc010tox.2_Missense_Mutation_p.P257S|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	327	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGAGAGCATCCCTCAGAAGAC	0.662000														27			6		0	0	0.001984	0	0
MECOM	2122	broad.mit.edu	37	3	168833264	168833264	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:168833264C>T	uc011bpj.1	-	7	2799	c.2396G>A	c.(2395-2397)gGa>gAa	p.G799E	MECOM_uc010hwk.1_Missense_Mutation_p.G634E|MECOM_uc003ffj.3_Missense_Mutation_p.G676E|MECOM_uc003ffi.3_Missense_Mutation_p.G611E|MECOM_uc011bpi.1_Missense_Mutation_p.G612E|MECOM_uc003ffn.3_Missense_Mutation_p.G611E|MECOM_uc003ffk.2_Missense_Mutation_p.G611E|MECOM_uc003ffl.2_Missense_Mutation_p.G771E|MECOM_uc011bpk.1_Missense_Mutation_p.G611E|MECOM_uc010hwn.2_Missense_Mutation_p.G799E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	20							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCCTTTTTTTCCCCCAAACAC	0.502000														25			9		0	0	0.006214	0	0
GSDMC	56169	broad.mit.edu	37	8	130765061	130765061	+	Missense_Mutation	SNP	C	T	T	rs142034966		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:130765061C>T	uc003ysr.3	-	6	1609	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	243						mitochondrion		p.E243K(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						tcggaaatttcgtactcttgg	0.488000														71			7		0	0	0.001984	0	0
GON4L	54856	broad.mit.edu	37	1	155736235	155736235	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:155736235G>A	uc001flz.2	-	20	3126	c.3029C>T	c.(3028-3030)cCc>cTc	p.P1010L	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.P1010L|GON4L_uc009wrh.1_Missense_Mutation_p.P1010L|GON4L_uc001fma.1_Missense_Mutation_p.P1010L|GON4L_uc001fmb.4_Missense_Mutation_p.P206L|GON4L_uc001fmc.3_Missense_Mutation_p.P1010L|GON4L_uc001fmd.4_Missense_Mutation_p.P1010L|GON4L_uc009wri.3_Missense_Mutation_p.P596L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1010					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGGAGAGAGGGGCTGGGTTG	0.557000														75			17		0	0	0.006122	0	0
IL7R	3575	broad.mit.edu	37	5	35876446	35876446	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:35876446G>A	uc003jjs.3	+	7	1327	c.1238G>A	c.(1237-1239)aGc>aAc	p.S413N	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	413					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTACAAACAGCACGCTGCCC	0.522000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							40			14		0	0	0.028581	0	0
NLRP3	114548	broad.mit.edu	37	1	247588534	247588534	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:247588534A>C	uc001icr.3	+	4	1927	c.1789A>C	c.(1789-1791)Agt>Cgt	p.S597R	NLRP3_uc001ics.3_Missense_Mutation_p.S597R|NLRP3_uc001icu.3_Missense_Mutation_p.S597R|NLRP3_uc001icw.3_Missense_Mutation_p.S597R|NLRP3_uc001icv.3_Missense_Mutation_p.S597R|NLRP3_uc010pyw.2_Missense_Mutation_p.S595R|NLRP3_uc001ict.1_Missense_Mutation_p.S595R	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	597					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGAAATTAAGTTGCAAGAT	0.438000														36			16		0	0	0.006122	0	0
OR5H6	79295	broad.mit.edu	37	3	97983179	97983179	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:97983179G>A	uc003dsi.1	+	0	51	c.51G>A	c.(49-51)atG>atA	p.M17I		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTGAGGAGATGGAAGAGGAAA	0.388000														74			11		0	0	0.008291	0	0
CHIT1	1118	broad.mit.edu	37	1	203186132	203186132	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:203186132G>A	uc001gzn.2	-	10	1382	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Missense_Mutation_p.P191L|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.P420L	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	429	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CCGAGGATTGGGATAGAGCCC	0.592000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		104			17		0	0	0.028581	0	0
STRA6	64220	broad.mit.edu	37	15	74481525	74481525	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr15:74481525C>T	uc002axj.3	-	11	1498	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R	STRA6_uc002axi.3_Missense_Mutation_p.G150R|STRA6_uc010ulh.2_Missense_Mutation_p.G379R|STRA6_uc002axk.3_Missense_Mutation_p.G341R|STRA6_uc002axl.3_Missense_Mutation_p.G273R|STRA6_uc010bji.3_Missense_Mutation_p.G341R|STRA6_uc021sqg.1_Missense_Mutation_p.G356R|STRA6_uc002axm.3_Missense_Mutation_p.G341R|STRA6_uc002axn.3_Missense_Mutation_p.G332R|STRA6_uc010uli.2_Missense_Mutation_p.G378R|STRA6_uc010bjj.1_Non-coding_Transcript	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	341					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						AGCACGATTCCAAAGCCGGCC	0.642000														16			6		0	0	0.021553	0	0
RGPD4	285190	broad.mit.edu	37	2	108476251	108476251	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:108476251G>T	uc010ywk.2	+	11	1790	c.1708G>T	c.(1708-1710)Ggc>Tgc	p.G570C	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	570					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGAAAAACATGGCCTTCAACC	0.323000														59			5		0.000157383	0.000162603	0.003080	1	0
SCP2	6342	broad.mit.edu	37	1	53420478	53420478	+	Splice_Site	SNP	T	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:53420478T>A	uc001cur.2	+	5	564	c.396_splice	c.e5+2	p.K132_splice	SCP2_uc010ono.2_Splice_Site_p.K51_splice|SCP2_uc010onp.2_Splice_Site_p.K108_splice|SCP2_uc009vzi.2_Splice_Site_p.K88_splice|SCP2_uc001cus.2_Splice_Site|SCP2_uc001cuq.2_Splice_Site_p.K88_splice	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	132					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GGAATAAAAGTGAGTGTTATT	0.338000														60			10		0	0	0.010729	0	0
CXCR3	2833	broad.mit.edu	37	X	70836525	70836525	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:70836525A>C	uc022bys.1	-	0	938	c.938T>G	c.(937-939)cTc>cGc	p.L313R	BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Missense_Mutation_p.L266R|CXCR3_uc011mpx.2_Missense_Mutation_p.L313R	NM_001142797	NP_001136269	P49682	CXCR3_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA.	266					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GGTCCAGCAGAGGGCAAAGGC	0.662000														26			3		0	0	0.009096	0	0
GABRB2	2561	broad.mit.edu	37	5	160758016	160758016	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:160758016G>A	uc003lys.1	-	8	1169	c.951C>T	c.(949-951)ttC>ttT	p.F317F	GABRB2_uc011deh.1_Silent_p.F156F|GABRB2_uc003lyr.1_Silent_p.F317F|GABRB2_uc003lyt.1_Silent_p.F317F|GABRB2_uc021yhg.1_Silent_p.F254F	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	317					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAAGGGCCATGAAAACGAAGA	0.507000														89			9		0	0	0.008291	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146391	5146391	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:5146391C>T	uc003jdl.3	+	2	462	c.324C>T	c.(322-324)ttC>ttT	p.F108F	ADAMTS16_uc003jdk.1_Silent_p.F108F|ADAMTS16_uc003jdj.1_Silent_p.F108F	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	108					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCACGACTTCCACATGGATC	0.552000														39			11		0	0	0.008291	0	0
GJB2	2706	broad.mit.edu	37	13	20763697	20763697	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:20763697C>T	uc001umy.3	-	1	239	c.24G>A	c.(22-24)acG>acA	p.T8T	GJB2_uc021rha.1_Silent_p.T8T	NM_004004	NP_003995	P29033	CXB2_HUMAN	Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA.	8					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	ER-Golgi intermediate compartment|connexon complex|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		CCCCCAGGATCGTCTGCAGCG	0.512000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			13		0	0	0.020292	0	0
EPHA3	2042	broad.mit.edu	37	3	89176412	89176412	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:89176412C>T	uc003dqy.3	+	1	367	c.142C>T	c.(142-144)Cca>Tca	p.P48S	EPHA3_uc003dqx.1_Missense_Mutation_p.P48S|EPHA3_uc021xbf.1_Missense_Mutation_p.P48S	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	48						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATCTCTTATCCATCACATGG	0.338000										TSP Lung(6;0.00050)				53			13		0	0	0.028581	0	0
ZNF716	441234	broad.mit.edu	37	7	57522875	57522875	+	Splice_Site	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:57522875G>A	uc011kdi.1	+	3	374	c.262_splice	c.e3+1	p.V88_splice		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAACACCCAGGTAGGTGAGAG	0.458000														66			15		0	0	0.024245	0	0
LONP1	9361	broad.mit.edu	37	19	5705925	5705925	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:5705925G>A	uc002mcx.3	-	7	1258	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	LONP1_uc002mcy.3_Silent_p.L345L|LONP1_uc010duh.3_Silent_p.L150L|LONP1_uc010dui.3_Silent_p.L393L|LONP1_uc002mcz.3_Silent_p.L213L	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	409					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCTTCTCCAGGCCCAGCTCC	0.577000														77			14		0	0	0.004990	0	0
COX7A2	1347	broad.mit.edu	37	6	75953460	75953460	+	Silent	SNP	T	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:75953460T>C	uc003phv.2	-	0	185	c.87A>G	c.(85-87)gtA>gtG	p.V29V	COX7A2_uc021zbx.1_Non-coding_Transcript	NM_001865	NP_001856	P14406	CX7A2_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIa polypeptide 2 (liver) (COX7A2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						TCTTGGCTGTTACTGACCAGC	0.542000														69			16		0	0	0.006122	0	0
USP17L2	377630	broad.mit.edu	37	8	11995072	11995072	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:11995072C>T	uc003wvc.1	-	0	1198	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	400					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCTCGCCTGTCTGTGTCTTCA	0.567000														13			3		0	0	0.004672	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948129	119948130	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:119948129_119948130CC>GT	uc010inb.3	+	2	801_802	c.605_606CC>GT	c.(604-606)tcc>tGT	p.S202C	SYNPO2_uc010ina.3_Missense_Mutation_p.S202C|SYNPO2_uc003icm.4_Missense_Mutation_p.S202C|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.S130C	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	202						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGCAACTGTCCCTTTCACAGG	0.540000														22			5		0	0	0.004672	0	0
TPTE	7179	broad.mit.edu	37	21	10942744	10942744	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr21:10942744C>T	uc002yip.1	-	12	1065	c.697G>A	c.(697-699)Gat>Aat	p.D233N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D215N|TPTE_uc002yir.1_Missense_Mutation_p.D195N|TPTE_uc010gkv.1_Missense_Mutation_p.D95N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	233	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D215N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAATCCATCCCTTGTGTAT	0.308000														293			20		0	0	0.021523	0	0
AP2B1	163	broad.mit.edu	37	17	33977562	33977562	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:33977562C>T	uc002hjr.3	+	12	1739	c.1550C>T	c.(1549-1551)cCt>cTt	p.P517L	AP2B1_uc002hjq.3_Missense_Mutation_p.P517L|AP2B1_uc010wci.2_Missense_Mutation_p.P479L|AP2B1_uc002hjs.3_Missense_Mutation_p.P460L|AP2B1_uc002hjt.3_Missense_Mutation_p.P517L|AP2B1_uc010ctv.3_Missense_Mutation_p.P517L|AP2B1_uc010wcj.2_Missense_Mutation_p.P254L	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	517					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	p.P517R(2)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCTGATAATCCTGACCTTCGA	0.443000														94			28		0	0	0.009535	0	0
MDGA1	266727	broad.mit.edu	37	6	37622290	37622290	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:37622290C>T	uc003onu.1	-	5	1921	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	MDGA1_uc003onw.3_5'Flank	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	248	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACCAGAGTTTCGTTCACAGAC	0.617000														94			25		0	0	0.027356	0	0
POTEA	340441	broad.mit.edu	37	8	43159852	43159852	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:43159852T>A	uc003xpz.1	+	5	887	c.844T>A	c.(844-846)Tta>Ata	p.L282I	POTEA_uc003xqa.1_Missense_Mutation_p.L236I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	282										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATTTGCCAATTACTTTCTGA	0.284000														20			8		0	0	0.003080	0	0
MYLK	4638	broad.mit.edu	37	3	123419849	123419849	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:123419849C>T	uc003ego.3	-	17	2748	c.2466G>A	c.(2464-2466)ggG>ggA	p.G822G	MYLK_uc011bjw.2_Silent_p.G822G|MYLK_uc003egp.3_Silent_p.G753G|MYLK_uc003egq.3_Silent_p.G822G|MYLK_uc003egr.3_Silent_p.G753G|MYLK_uc003egs.3_Silent_p.G646G|MYLK_uc003egt.3_Silent_p.G13G	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	822					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGCTCCCTCCCCCTGCAAC	0.592000														24			5		0	0	0.021553	0	0
CNNM2	54805	broad.mit.edu	37	10	104809545	104809545	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:104809545C>T	uc001kwm.3	+	1	1866	c.1703C>T	c.(1702-1704)aCc>aTc	p.T568I	CNNM2_uc001kwn.3_Missense_Mutation_p.T568I	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	568	CBS 2.		T -> I (in HOMG6; reduced activity; electrophysiological analysis shows that magnesium-sensitive sodium currents are significantly diminished and are blocked by increased extracellular magnesium concentrations).		ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGAATCGTCACCTTAGAAGAT	0.388000														61			6		0	0	0.021553	0	0
KIAA1549	57670	broad.mit.edu	37	7	138555961	138555961	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:138555961G>A	uc011kql.2	-	12	4542	c.4493C>T	c.(4492-4494)cCc>cTc	p.P1498L	KIAA1549_uc011kqi.2_Missense_Mutation_p.P282L|KIAA1549_uc011kqk.2_Missense_Mutation_p.P282L|KIAA1549_uc011kqj.2_Missense_Mutation_p.P1498L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1498						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCGCTGGACGGGAGGTGCCGG	0.557000			O	BRAF	pilocytic astrocytoma									43			15		0	0	0.004990	0	0
PKD1L1	168507	broad.mit.edu	37	7	47874752	47874752	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:47874752G>A	uc003tny.2	-	37	6067	c.6033C>T	c.(6031-6033)tcC>tcT	p.S2011S		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2011					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGAAGAGCAGGGACAAGAGCT	0.607000														41			7		0	0	0.003080	0	0
CD163L1	283316	broad.mit.edu	37	12	7550931	7550931	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:7550931C>T	uc010sge.2	-	6	1714	c.1688G>A	c.(1687-1689)tGg>tAg	p.W563*	CD163L1_uc001qsy.3_Nonsense_Mutation_p.W553*	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	553	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTCACAGTCCCAGATATTTGA	0.403000														64			9		0	0	0.006214	0	0
TMEM8C	389827	broad.mit.edu	37	9	136385350	136385350	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:136385350G>A	uc011mdk.2	-	1	298	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	Homo sapiens transmembrane protein 8C (TMEM8C), mRNA.	66						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						AAATACTCCAGGATGTCGTGA	0.587000														27			3		0	0	0.004672	0	0
HLA-E	3133	broad.mit.edu	37	6	30459126	30459126	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:30459126G>A	uc011dmh.2	+	2	973	c.946G>A	c.(946-948)Gag>Aag	p.E316K	HLA-E_uc011dmg.2_Non-coding_Transcript|HLA-E_uc003nqg.3_Missense_Mutation_p.E275K			P13747	HLAE_HUMAN	Homo sapiens major histocompatibility complex, class I, E (HLA-E), mRNA.	275					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TTCTGGAGAGGAGCAGAGATA	0.617000														62			11		0	0	0.008291	0	0
DNAH5	1767	broad.mit.edu	37	5	13824439	13824439	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:13824439G>A	uc003jfd.2	-	38	6490	c.6448C>T	c.(6448-6450)Cat>Tat	p.H2150Y		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2150	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGTCATAATGAACCTAGAGA	0.388000									Kartagener syndrome					23			3		0	0	0.004672	0	0
DNAJC14	85406	broad.mit.edu	37	12	56215836	56215836	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:56215836C>T	uc001shu.2	-	5	2090	c.2034G>A	c.(2032-2034)aaG>aaA	p.K678K	DNAJC14_uc001shx.1_Silent_p.K678K|DNAJC14_uc009zob.1_Silent_p.K678K	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 14 (DNAJC14), mRNA.	678					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TGCTGTTGGGCTTAGAGGCTG	0.547000														60			16		0	0	0.006122	0	0
CUX1	1523	broad.mit.edu	37	7	101847737	101847737	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:101847737A>T	uc003uys.4	+	18	3134	c.3007A>T	c.(3007-3009)Acg>Tcg	p.T1003S	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.T992S	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	992					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGCAAGCTGACGCAGAAAGG	0.647000														79			22		0	0	0.014323	0	0
NANOG	79923	broad.mit.edu	37	12	7945552	7945552	+	Missense_Mutation	SNP	C	T	T	rs71445169		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:7945552C>T	uc009zfy.1	+	1	374	c.158C>T	c.(157-159)cCt>cTt	p.P53L		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	53					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		ACAGTCTCTCCTCTTCCTTCC	0.363000														75			8		0	0	0.004482	0	0
ZNF641	121274	broad.mit.edu	37	12	48739160	48739160	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:48739160A>C	uc001rrn.2	-	4	678	c.416T>G	c.(415-417)aTg>aGg	p.M139R	ZNF641_uc001rro.2_Missense_Mutation_p.M125R|ZNF641_uc010sls.2_Intron	NM_152320	NP_001166152	Q96N77	ZN641_HUMAN	Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA.	139	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GTTTTCCTGCATGACATATTC	0.527000														51			17		0	0	0.006122	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138638	126138638	+	Silent	SNP	C	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:126138638C>A	uc001uhe.1	+	8	2627	c.2619C>A	c.(2617-2619)ccC>ccA	p.P873P	TMEM132B_uc001uhf.1_Silent_p.P385P	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	873						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)		CAAGCTTCCCCACTCAAGGGA	0.507000														21			9		7.48243e-07	7.79019e-07	0.006214	1	0
ORM1	5004	broad.mit.edu	37	9	117086343	117086343	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:117086343G>A	uc004bik.4	+	2	414	c.303G>A	c.(301-303)cgG>cgA	p.R101R	ORM1_uc011lxo.2_Silent_p.R101R	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	101					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	ATGTCCAGCGGGAAAATGGGA	0.537000														54			10		0	0	0.006214	0	0
IGSF1	3547	broad.mit.edu	37	X	130410995	130410995	+	Silent	SNP	A	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:130410995A>C	uc004ewe.4	-	13	2824	c.2541T>G	c.(2539-2541)ggT>ggG	p.G847G	IGSF1_uc004ewd.3_Silent_p.G842G|IGSF1_uc022cdv.1_Silent_p.G833G|IGSF1_uc004ewf.2_Silent_p.G822G	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	842	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCCTCCATCACCAATGCCCA	0.522000														237			37		0	0	0.023175	0	0
BRD8	10902	broad.mit.edu	37	5	137502286	137502286	+	Silent	SNP	T	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:137502286T>C	uc003lcf.1	-	9	973	c.918A>G	c.(916-918)caA>caG	p.Q306Q	BRD8_uc011cyl.2_Silent_p.Q85Q|BRD8_uc021yea.1_Silent_p.Q196Q|BRD8_uc003lcg.3_Silent_p.Q379Q|BRD8_uc003lci.3_Intron|BRD8_uc011cym.2_Silent_p.Q290Q|BRD8_uc011cyn.1_Silent_p.Q265Q	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	306				Q -> H (in Ref. 6; AAB87858).	cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAATGGTAGCTTGGGACACAG	0.557000														28			7		0	0	0.004482	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47611060	47611060	+	Missense_Mutation	SNP	G	A	A	rs149644732		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:47611060G>A	uc002xtx.4	+	21	3198	c.3046G>A	c.(3046-3048)Gga>Aga	p.G1016R	ARFGEF2_uc010zyf.2_Missense_Mutation_p.G309R	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1016					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTACCTGTCTGGATCTGGGCG	0.537000														41			10		0	0	0.008291	0	0
ACSL6	23305	broad.mit.edu	37	5	131303644	131303644	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:131303644C>T	uc003kvx.2	-	15	1694	c.1585G>A	c.(1585-1587)Gga>Aga	p.G529R	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.G494R|ACSL6_uc003kvy.2_Missense_Mutation_p.G529R|ACSL6_uc003kvz.2_Missense_Mutation_p.G429R|ACSL6_uc021ydh.1_Missense_Mutation_p.G429R|ACSL6_uc010jdo.2_Missense_Mutation_p.G504R|ACSL6_uc003kwa.2_Missense_Mutation_p.G515R|ACSL6_uc003kvw.2_Missense_Mutation_p.G150R|ACSL6_uc010jdn.2_Missense_Mutation_p.G519R	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	504					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTCCCTCTCCTTTGCAGGCC	0.488000														110			7		0	0	0.003080	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	39976	39976	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrGL000218.1:39976G>A	uc011mfn.2	-	3	430	c.341C>T	c.(340-342)gCc>gTc	p.A114V	LOC100233156_uc003jah.2_Missense_Mutation_p.A114V					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GTCCTTGATGGCCTCCTTCAG	0.617000														8			6		0	0	0.001984	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173659880	173659880	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:173659880G>A	uc002uhv.4	+	1	380	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	RAPGEF4_uc002uhu.2_Missense_Mutation_p.E65K|RAPGEF4_uc010fqn.3_Missense_Mutation_p.E48K	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	65					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGAGAATCTGGAAAAGGGAAT	0.328000														102			18		0	0	0.010504	0	0
FEZF1	389549	broad.mit.edu	37	7	121943282	121943282	+	Silent	SNP	T	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:121943282T>C	uc003vkd.3	-	1	959	c.885A>G	c.(883-885)aaA>aaG	p.K295K	FEZF1_uc003vkc.3_Silent_p.K245K|LOC154860_uc010lko.2_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	295					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCCTGAAACCTTTTCCGCACA	0.468000														114			4		0	0	0.009096	0	0
PSG8	440533	broad.mit.edu	37	19	43268068	43268068	+	Splice_Site	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:43268068G>A	uc002ouo.2	-	2	528	c.430_splice	c.e2+1	p.L144_splice	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Splice_Site_p.L144_splice|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	144	Ig-like V-type.					extracellular region		p.L144L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AATCACTCACGATATAAGGTG	0.498000														169			29		0	0	0.017118	0	0
ARR3	407	broad.mit.edu	37	X	69489979	69489979	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:69489979T>A	uc004dyb.2	+	4	198	c.130T>A	c.(130-132)Tta>Ata	p.L44I	ARR3_uc004dya.3_Missense_Mutation_p.L44I	NM_004312	NP_004303	P36575	ARRC_HUMAN	Homo sapiens arrestin 3, retinal (X-arrestin) (ARR3), mRNA.	44			L -> F (in dbSNP:rs17855428).		signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TCCTGAGTACTTAAAATGTCG	0.438000														62			9		0	0	0.006214	0	0
SMPD3	55512	broad.mit.edu	37	16	68405331	68405331	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:68405331C>T	uc002ewa.3	-	2	1176	c.754G>A	c.(754-756)Ggc>Agc	p.G252S	SMPD3_uc010cfe.3_Missense_Mutation_p.G252S|SMPD3_uc010vlh.2_Missense_Mutation_p.G252S	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	252					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GGCCGGCCGCCCTCCTCGCCA	0.711000														20			4		0	0	0.009096	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605793	58605793	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:58605793C>T	uc001nnd.4	-	2	258	c.127G>A	c.(127-129)Gag>Aag	p.E43K	GLYATL2_uc009ymq.3_Missense_Mutation_p.E43K	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	43						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	ACCAGCACCTCCATGTTGAAA	0.443000														38			8		0	0	0.004482	0	0
OR5H14	403273	broad.mit.edu	37	3	97868537	97868537	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:97868537C>T	uc003dsg.1	+	0	308	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(2)|p.S103S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393000														100			28		0	0	0.008361	0	0
RGL4	266747	broad.mit.edu	37	22	24035163	24035163	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:24035163G>A	uc002zxo.3	+	2	1938	c.681G>A	c.(679-681)ctG>ctA	p.L227L	GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.L227L|RGL4_uc002zxp.1_Silent_p.L91L|RGL4_uc002zxq.3_Silent_p.L91L			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	227	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CAGAGCAGCTGACCCTCATGG	0.612000														18			9		0	0	0.006214	0	0
PKP2	5318	broad.mit.edu	37	12	33003895	33003895	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:33003895G>A	uc001rlj.4	-	4	1298	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C	PKP2_uc001rlk.4_Missense_Mutation_p.R395C|PKP2_uc010skj.2_Missense_Mutation_p.R395C	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	395					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGGATGCCACGAAGCTGGTTA	0.408000														36			16		0	0	0.024245	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26885410	26885410	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:26885410C>T	uc001bmr.1	+	13	1360	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	RPS6KA1_uc010ofe.1_Silent_p.P307P|RPS6KA1_uc010off.1_Silent_p.P383P|RPS6KA1_uc001bms.1_Silent_p.P408P|RPS6KA1_uc009vsl.1_Silent_p.P242P	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	399					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CGCAGGCACCCCTGCACTCGG	0.632000														35			16		0	0	0.006122	0	0
TSPYL6	388951	broad.mit.edu	37	2	54483115	54483115	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:54483115C>T	uc002rxr.2	-	0	295	c.174G>A	c.(172-174)ggG>ggA	p.G58G	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	58					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GGGGCGCGACCCCCTCCTCTG	0.602000														120			10		0	0	0.016723	0	0
ZNF229	7772	broad.mit.edu	37	19	44932791	44932791	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:44932791C>T	uc002oze.1	-	5	2599	c.2165G>A	c.(2164-2166)aGa>aAa	p.R722K	ZNF229_uc010ejk.1_Missense_Mutation_p.R376K|ZNF229_uc010ejl.1_Missense_Mutation_p.R716K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGAGCCATATCTGAAACCCTT	0.498000														41			12		0	0	0.010729	0	0
FRG2B	441581	broad.mit.edu	37	10	135440242	135440242	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:135440242C>T	uc010qvg.2	-	0	58	c.5G>A	c.(4-6)gGa>gAa	p.G2E		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	2						nucleus		p.M1I(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ATTTCCCTTTCCCATGTTGAA	0.532000														142			10		0	0	0.016723	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531943	140531943	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:140531943C>T	uc003lir.3	+	0	2105	c.2105C>T	c.(2104-2106)tCg>tTg	p.S702L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	702					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S702L(2)|p.S702A(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.687000														116			31		0	0	0.017118	0	0
NUMB	8650	broad.mit.edu	37	14	73783103	73783103	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:73783103C>T	uc001xny.1	-	5	549	c.229G>A	c.(229-231)Gga>Aga	p.G77R	NUMB_uc010aro.1_Missense_Mutation_p.G77R|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Missense_Mutation_p.G77R|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Missense_Mutation_p.G77R|NUMB_uc001xnz.1_Intron|NUMB_uc001xob.1_Intron|NUMB_uc001xod.1_Missense_Mutation_p.G77R|NUMB_uc001xoc.1_Missense_Mutation_p.G77R|NUMB_uc010ars.1_Intron|NUMB_uc001xof.1_Intron|NUMB_uc001xog.3_Intron|NUMB_uc001xoh.1_Intron	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	77	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CTTACTTTTCCAAAGAAGCCT	0.403000														40			6		0	0	0.004482	0	0
RBM47	54502	broad.mit.edu	37	4	40440415	40440415	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:40440415C>T	uc003gvc.2	-	3	1206	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	RBM47_uc003gvd.2_Missense_Mutation_p.E166K|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.E128K|RBM47_uc003gvg.1_Missense_Mutation_p.E166K	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	166	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCCAGGATTTCCTCGCGCTTC	0.637000														45			16		0	0	0.028581	0	0
LAMA4	3910	broad.mit.edu	37	6	112440433	112440433	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:112440433C>T	uc003pvu.2	-	33	5056	c.4747G>A	c.(4747-4749)Gaa>Aaa	p.E1583K	LAMA4_uc003pvv.2_Missense_Mutation_p.E1576K|LAMA4_uc003pvt.2_Missense_Mutation_p.E1576K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1583	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGGTAGCTTCAGTAGGAGGA	0.478000														63			18		0	0	0.008871	0	0
VHL	7428	broad.mit.edu	37	3	10191497	10191497	+	Nonsense_Mutation	SNP	C	T	T	rs5030819		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:10191497C>T	uc003bvc.3	+	2	703	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	VHL_uc003bvd.3_Nonsense_Mutation_p.Q123*	NM_000551	NP_000542	P40337	VHL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.	164	Interaction with Elongin BC complex.		Q -> H (in VHLD).|Q -> R (in VHLD; type II).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.Q164*(8)|p.L163P(4)|p.L163fs*7(3)|p.Q164P(3)|p.Q164H(3)|p.Q164fs*9(2)|p.Q164fs*10(2)|p.Q164R(1)|p.L158fs*6(1)|p.L163H(1)|p.Q164L(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCGATGCCTCCAGGTTGTCCG	0.502000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia					28			3		0	0	0.009096	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414195	105414195	+	Silent	SNP	G	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:105414195G>C	uc010axc.1	-	6	7713	c.7593C>G	c.(7591-7593)ctC>ctG	p.L2531L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L2431L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2531						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGAATGCTGAGGTCAGTGG	0.667000														136			4		0	0	0.013537	0	0
DNER	92737	broad.mit.edu	37	2	230231745	230231745	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:230231745G>A	uc002vpv.3	-	11	2093	c.1946C>T	c.(1945-1947)gCc>gTc	p.A649V		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	649					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AAGGATGAAGGCCACGCAGAG	0.557000														19			8		0	0	0.003080	0	0
TMC5	79838	broad.mit.edu	37	16	19485449	19485449	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:19485449C>T	uc002dgc.4	+	11	2690	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	TMC5_uc010vaq.2_Silent_p.F595F|TMC5_uc002dgb.4_Silent_p.F647F|TMC5_uc010var.2_Silent_p.F647F|TMC5_uc002dgd.1_Silent_p.F401F|TMC5_uc002dge.4_Silent_p.F401F|TMC5_uc002dgf.4_Silent_p.F330F|TMC5_uc002dgg.4_Silent_p.F288F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	647						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCCTGCAGTTCCTGAAGACAC	0.522000														106			25		0	0	0.009535	0	0
HPS3	84343	broad.mit.edu	37	3	148858186	148858186	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:148858186G>A	uc003ewu.1	+	1	753	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	HPS3_uc011bnq.1_Intron|HPS3_uc021xfk.1_Missense_Mutation_p.E98K	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	205						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTCAGACTTAGAAGTCTTAAT	0.383000									Hermansky-Pudlak syndrome					47			13		0	0	0.016723	0	0
SPOCD1	90853	broad.mit.edu	37	1	32265660	32265660	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:32265660G>A	uc001bts.1	-	4	1743	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	SPOCD1_uc001btu.3_Missense_Mutation_p.S562F|SPOCD1_uc001btv.3_Missense_Mutation_p.S55F|SPOCD1_uc021oks.1_5'Flank|SPOCD1_uc001btw.1_5'Flank	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	562					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AAGGGCCAGGGAACCGCTTCT	0.632000														38			7		0	0	0.001984	0	0
KIF15	56992	broad.mit.edu	37	3	44852400	44852400	+	Silent	SNP	T	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:44852400T>C	uc003cnx.4	+	16	2183	c.2034T>C	c.(2032-2034)ccT>ccC	p.P678P	KIF15_uc010hiq.3_Silent_p.P581P|KIF15_uc003cny.1_Silent_p.P313P	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	678					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)		AATTAAGCCCTGAAATGGGAA	0.373000														41			3		0	0	0.004672	0	0
JUP	3728	broad.mit.edu	37	17	39921203	39921203	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:39921203G>A	uc002hxq.2	-	5	1303	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.P342P|JUP_uc002hxs.2_Silent_p.P342P	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	342					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCTTATTGCTGGGACACACGG	0.592000														80			25		0	0	0.024334	0	0
MST1P2	11209	broad.mit.edu	37	1	16974686	16974686	+	RNA	SNP	G	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:16974686G>T	uc010och.2	+	6		c.1146G>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		ACGACGTGCGGCCCCAGGGTG	0.711000														39			6		0.000274275	0.00028265	0.004482	1	0
SAGE1	55511	broad.mit.edu	37	X	134987465	134987465	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:134987465G>A	uc004ezh.3	+	4	535	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	SAGE1_uc010nry.1_Missense_Mutation_p.R92Q|SAGE1_uc011mvv.2_Missense_Mutation_p.R123Q	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	123								p.R123R(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGCCAATCTCGAACTGACAAA	0.468000														55			8		0	0	0.003080	0	0
TAF4B	6875	broad.mit.edu	37	18	23873455	23873455	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr18:23873455C>T	uc002kvt.4	+	8	2296	c.1807C>T	c.(1807-1809)Cag>Tag	p.Q603*	TAF4B_uc002kvu.4_Nonsense_Mutation_p.Q598*|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	598					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ATCTCCTACTCAGAAAAATAG	0.274000														19			4		0	0	0.014758	0	0
COL4A5	1287	broad.mit.edu	37	X	107939566	107939566	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:107939566G>A	uc022ccg.1	+	52	5236	c.5034G>A	c.(5032-5034)agG>agA	p.R1678R	COL4A5_uc004enz.1_Silent_p.R1672R	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1672	Collagen IV NC1.		C -> W (in APSX).|Missing (in APSX).		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						GAGACTTGAGGACACGAATTA	0.338000									Alport syndrome with Diffuse Leiomyomatosis					53			5		0	0	0.021553	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174235	150174235	+	Silent	SNP	G	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:150174235G>T	uc003whj.3	+	4	1695	c.1365G>T	c.(1363-1365)ggG>ggT	p.G455G		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	455						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTGCGACCGGGAACTCTATCC	0.592000														66			11		2.80697e-09	2.96048e-09	0.010729	1	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	G	G	rs60608267	by1000genomes	TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:132547093A>G	uc001ujn.3	+	46	8333	c.8181A>G	c.(8179-8181)caA>caG	p.Q2727Q	EP400_uc021rgq.1_Silent_p.Q2726Q|EP400_uc001ujm.3_Silent_p.Q2646Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2763	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(18)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000														36			3		0	0	0.004672	0	0
GNA14	9630	broad.mit.edu	37	9	80144101	80144101	+	Missense_Mutation	SNP	C	T	T	rs148544176		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:80144101C>T	uc004aku.3	-	1	716	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_004297	NP_004288	O95837	GNA14_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA.	65					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						CTGTCTTCGTCGCTGTAACCA	0.448000														206			25		0	0	0.007291	0	0
RPL39L	116832	broad.mit.edu	37	3	186839028	186839028	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:186839028G>A	uc003fre.1	-	2	416	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	RPL39L_uc021xim.1_Missense_Mutation_p.R21C	NM_052969	NP_443201	Q96EH5	RL39L_HUMAN	Homo sapiens ribosomal protein L39-like (RPL39L), mRNA.	21					spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		GGGATGGGACGATTTTGCTTT	0.458000														74			7		0	0	0.001984	0	0
EPN3	55040	broad.mit.edu	37	17	48617661	48617661	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:48617661C>T	uc010wms.2	+	5	1217	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	SPATA20_uc002irc.3_5'Flank|EPN3_uc002ira.4_Silent_p.S315S|EPN3_uc010wmt.2_Intron|EPN3_uc010wmu.2_Silent_p.S288S			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	315	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCCCGCCCTCCACACACTGCT	0.657000														35			5		0	0	0.001984	0	0
AK098438	0	broad.mit.edu	37	1	21752758	21752758	+	RNA	SNP	T	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:21752758T>A	uc001bep.1	-	2		c.218A>T								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		CAACGTGTTCTTCCTCCAATG	0.453000														86			9		0	0	0.006214	0	0
CD163L1	283316	broad.mit.edu	37	12	7510023	7510023	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:7510023G>A	uc010sge.2	-	18	4395	c.4369C>T	c.(4369-4371)Cct>Tct	p.P1457S	CD163L1_uc001qsy.3_Missense_Mutation_p.P1447S	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1447						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCAGAGGCAGGAAGAACTCCC	0.413000														53			7		0	0	0.006214	0	0
ZNF735	730291	broad.mit.edu	37	7	63673514	63673514	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:63673514G>A	uc011kdn.2	+	1	84	c.84G>A	c.(82-84)gcG>gcA	p.A28A		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCTCTCTGGCGGAGTGGCAAT	0.413000														16			6		0	0	0.021553	0	0
LPAR1	1902	broad.mit.edu	37	9	113704021	113704021	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:113704021C>T	uc011lwo.2	-	1	478	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	LPAR1_uc004bfa.3_Missense_Mutation_p.R158Q|LPAR1_uc011lwm.2_Missense_Mutation_p.R159Q|LPAR1_uc004bfc.3_Missense_Mutation_p.R158Q|LPAR1_uc011lwn.2_Missense_Mutation_p.R140Q|LPAR1_uc004bfb.3_Missense_Mutation_p.R158Q|LPAR1_uc010mub.3_Missense_Mutation_p.R158Q	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	158					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.R158W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GTTGCTCATCCGTGTGTGGAG	0.542000														45			7		0	0	0.001984	0	0
PAH	5053	broad.mit.edu	37	12	103248959	103248959	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:103248959C>T	uc001tjq.1	-	5	1134	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	PAH_uc010swc.1_Missense_Mutation_p.E221K	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	221			E -> G (in PKU; haplotype 4).		L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ATGTTATCTTCATGGAAGCCA	0.463000														27			6		0	0	0.001984	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803196	185803196	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:185803196G>A	uc002uph.3	+	3	3667	c.3073G>A	c.(3073-3075)Gct>Act	p.A1025T		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1025						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						GCAAATCCTGGCTCCATTAGC	0.418000														53			6		0	0	0.021553	0	0
LPA	4018	broad.mit.edu	37	6	161007619	161007619	+	Missense_Mutation	SNP	G	A	A	rs147936725	by1000genomes	TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:161007619G>A	uc003qtl.3	-	25	4111	c.3991C>T	c.(3991-3993)Cgc>Tgc	p.R1331C		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3839	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACCAAGGGCGAATCTCAGCA	0.498000														30			17		0	0	0.004990	0	0
TCP10L2	401285	broad.mit.edu	37	6	167585680	167585680	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:167585680C>T	uc010kkp.3	+	1	179	c.48C>T	c.(46-48)caC>caT	p.H16H		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	16										endometrium(1)|kidney(2)|lung(3)	6						AGGGCACCCACCCAGAGGACC	0.667000														9			5		0	0	0.014758	0	0
PCNX	22990	broad.mit.edu	37	14	71575607	71575607	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:71575607C>T	uc001xmo.2	+	33	7034	c.6588C>T	c.(6586-6588)tcC>tcT	p.S2196S	PCNX_uc010are.1_Silent_p.S2085S|PCNX_uc010arf.1_Silent_p.S984S|PCNX_uc001xmp.2_Silent_p.S280S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	2196	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCAGCAGCTCCAGCCAAAGCA	0.592000														38			13		0	0	0.016723	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798661	160798661	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:160798661G>A	uc002ube.2	-	28	4366	c.4154C>T	c.(4153-4155)aCt>aTt	p.T1385I	PLA2R1_uc010zcp.2_Missense_Mutation_p.T1383I	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1385					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CGCCTCTGCAGTGTGAATATC	0.318000														35			7		0	0	0.006214	0	0
HM13	81502	broad.mit.edu	37	20	30132785	30132785	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:30132785C>T	uc002wwc.3	+	3	515	c.401C>T	c.(400-402)cCa>cTa	p.P134L	HM13_uc002wwd.3_Missense_Mutation_p.P134L|HM13_uc002wwe.3_Missense_Mutation_p.P134L|HM13_uc002wwf.3_5'Flank|HM13_uc010gdt.3_5'Flank	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	134					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GCCAGCTTTCCAAATCGACAG	0.512000														51			8		0	0	0.003080	0	0
RASAL1	8437	broad.mit.edu	37	12	113553569	113553569	+	Silent	SNP	A	G	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:113553569A>G	uc001tun.2	-	10	1175	c.874T>C	c.(874-876)Ttg>Ctg	p.L292L	RASAL1_uc010syp.2_Silent_p.L292L|RASAL1_uc001tul.3_Silent_p.L292L|RASAL1_uc001tum.2_Silent_p.L292L|RASAL1_uc010syq.2_Silent_p.L292L|RASAL1_uc001tuo.4_Silent_p.L292L|RASAL1_uc010syr.2_Silent_p.L292L	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	292					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCTTCCAGCAAAGCCAAGGGG	0.627000														35			12		0	0	0.028581	0	0
FAM129A	116496	broad.mit.edu	37	1	184777223	184777223	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:184777223C>T	uc001gra.3	-	9	1514	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q	FAM129A_uc001grb.1_Silent_p.Q203Q|FAM129A_uc009wyh.1_Silent_p.Q268Q|FAM129A_uc009wyi.1_Silent_p.Q238Q	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	440					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCATGTAGTTCTGTGTCCTCT	0.537000														126			29		0	0	0.010818	0	0
DCHS2	54798	broad.mit.edu	37	4	155157594	155157594	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:155157594G>A	uc003inw.2	-	24	6845	c.6845C>T	c.(6844-6846)aCc>aTc	p.T2282I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2282	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GACAGTTAAGGTGAATTTTGT	0.353000														37			8		0	0	0.003080	0	0
RNF8	9025	broad.mit.edu	37	6	37336896	37336896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:37336896C>T	uc003onq.4	+	2	1070	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	RNF8_uc003onr.4_Nonsense_Mutation_p.Q293*|RNF8_uc011dtx.2_Nonsense_Mutation_p.Q225*	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	293	Gln-rich.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCAGGAACTTCAGGACTTACA	0.468000														38			9		0	0	0.006214	0	0
ANK3	288	broad.mit.edu	37	10	61835986	61835986	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:61835986G>A	uc001jky.3	-	36	4991	c.4653C>T	c.(4651-4653)tcC>tcT	p.S1551S	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1551	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGCCTAATGTGGATTTGATTG	0.423000														69			24		0	0	0.006320	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419972	19419972	+	RNA	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:19419972G>A	uc010tcj.1	-	0		c.26138C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AAATTCATTGGTTTAGTTCAA	0.303000														76			4		0	0	0.014758	0	0
VCAN	1462	broad.mit.edu	37	5	82815321	82815321	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:82815321G>A	uc003kii.3	+	6	1552	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G399E|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	399	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCTCCCGTGGGAAATATTGTC	0.423000														99			7		0	0	0.001984	0	0
NEB	4703	broad.mit.edu	37	2	152512945	152512945	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:152512945C>T	uc021vrb.1	-	46	6246	c.6217G>A	c.(6217-6219)Ggg>Agg	p.G2073R	NEB_uc002txu.3_Missense_Mutation_p.G2073R|NEB_uc021vrc.1_Missense_Mutation_p.G2073R|NEB_uc010fnx.3_Missense_Mutation_p.G2073R|NEB_uc021vrd.1_Missense_Mutation_p.G2073R	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2073					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACCATTTTCCCCTTCCCTTTT	0.368000														73			11		0	0	0.013537	0	0
CHL1	10752	broad.mit.edu	37	3	431047	431047	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:431047G>A	uc003bot.3	+	19	3002	c.2360G>A	c.(2359-2361)cGg>cAg	p.R787Q	CHL1_uc003bou.3_Missense_Mutation_p.R771Q|CHL1_uc003bow.2_Missense_Mutation_p.R771Q|CHL1_uc011asi.2_Missense_Mutation_p.R787Q	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	771	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.L786L(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CACACATTGCGGGTGATGACG	0.527000														45			21		0	0	0.027356	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997520	46997520	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:46997520G>A	uc002pes.2	-	0	1650	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	401										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCTTGCGCAGGACCACGGCGT	0.677000														23			6		0	0	0.021553	0	0
SORBS1	10580	broad.mit.edu	37	10	97097017	97097017	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:97097017G>A	uc001kkp.3	-	27	2945	c.2900C>T	c.(2899-2901)cCc>cTc	p.P967L	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.P921L|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	967					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CAGAGATGAGGGGGCTGGCGT	0.532000														15			3		0	0	0.004672	0	0
ZBED2	79413	broad.mit.edu	37	3	111312580	111312580	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:111312580C>T	uc003dxy.3	-	1	1370	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.E157K	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	157							DNA binding|metal ion binding	p.R156R(1)		large_intestine(3)|lung(1)|skin(2)	6						ACCTCCTTTTCCCTTTGGCTG	0.627000														56			18		0	0	0.016522	0	0
TPTE	7179	broad.mit.edu	37	21	10998311	10998311	+	RNA	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr21:10998311C>T	uc002yis.1	-	10		c.1942G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTGATTTTCCATCACAATC	0.363000														61			10		0	0	0.008291	0	0
CBL	867	broad.mit.edu	37	11	119158644	119158644	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:119158644C>T	uc001pwe.3	+	11	2162	c.2024C>T	c.(2023-2025)tCt>tTt	p.S675F		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	675	Interaction with CD2AP.|Pro-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.S675C(4)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GCCATTTATTCTCTGGCTGCC	0.403000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					35			11		0	0	0.016723	0	0
SHOX2	6474	broad.mit.edu	37	3	157818099	157818099	+	Splice_Site	SNP	A	G	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:157818099A>G	uc003fbs.3	-	4	767	c.628_splice	c.e4-1	p.V210_splice	SHOX2_uc003fbr.3_Splice_Site_p.V186_splice|SHOX2_uc010hvw.3_Splice_Site_p.V186_splice	NM_003030	NP_003021	O60902	SHOX2_HUMAN	Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA.	186					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V57A(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGAAACCAAACCTATAGGTT	0.313000														56			5		0	0	0.014758	0	0
MCCC2	64087	broad.mit.edu	37	5	70892176	70892176	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:70892176A>G	uc003kbs.4	+	2	404	c.266A>G	c.(265-267)aAt>aGt	p.N89S	MCCC2_uc010iyv.1_Missense_Mutation_p.N89S|MCCC2_uc003kbt.4_Non-coding_Transcript	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	89	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGAATTGACAATCTCATAGAC	0.388000														81			21		0	0	0.012319	0	0
ETNK1	55500	broad.mit.edu	37	12	22796809	22796809	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:22796809G>A	uc001rft.3	+	1	558	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	ETNK1_uc009ziz.3_Missense_Mutation_p.R179Q|ETNK1_uc001rfs.3_Missense_Mutation_p.R179Q	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.	179					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTAGTCGATCGAGATGAGGAA	0.403000														63			10		0	0	0.008291	0	0
RAC1	5879	broad.mit.edu	37	7	6441629	6441629	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:6441629C>T	uc003spx.3	+	4	660	c.419C>T	c.(418-420)cCg>cTg	p.P140L	RAC1_uc003spw.3_Missense_Mutation_p.P159L|RAC1_uc021zzg.1_Missense_Mutation_p.P96L	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	140					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	ATCACCTATCCGCAGGGTCTA	0.458000														93			18		0	0	0.014323	0	0
GZMB	3002	broad.mit.edu	37	14	25101557	25101557	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:25101557G>C	uc001wps.2	-	2	378	c.312C>G	c.(310-312)aaC>aaG	p.N104K	GZMB_uc010ama.2_Missense_Mutation_p.N92K|GZMB_uc010amb.2_Intron	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	104	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CGTTGGAGAAGTTCTTAGGAT	0.537000														106			31		0	0	0.021022	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561799	145561799	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:145561799G>A	uc001eob.1	+	9	1595	c.1487G>A	c.(1486-1488)aGg>aAg	p.R496K	ANKRD35_uc010oyx.1_Missense_Mutation_p.R339K	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	496										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTCAACTAAGGGAGGAGCTT	0.602000														124			36		0	0	0.025465	0	0
SH2D4B	387694	broad.mit.edu	37	10	82369223	82369223	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:82369223A>T	uc001kck.1	+	5	1331	c.901A>T	c.(901-903)Atc>Ttc	p.I301F	SH2D4B_uc001kcl.1_Missense_Mutation_p.I253F|SH2D4B_uc001kcm.1_Missense_Mutation_p.I48F	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	300										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CAGAGATGTCATCGTCCGCTG	0.592000														39			9		0	0	0.006214	0	0
VPS13D	55187	broad.mit.edu	37	1	12343435	12343435	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:12343435C>T	uc001atv.3	+	20	5417	c.5276C>T	c.(5275-5277)cCc>cTc	p.P1759L	VPS13D_uc001atw.3_Missense_Mutation_p.P1759L|VPS13D_uc001atx.3_Missense_Mutation_p.P947L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1759					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGGACTATCCCTTGACCCCA	0.458000														35			5		0	0	0.014758	0	0
MUC16	94025	broad.mit.edu	37	19	9018453	9018453	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:9018453C>T	uc002mkp.3	-	23	37925	c.37721G>A	c.(37720-37722)aGg>aAg	p.R12574K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12576	SEA 4.				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						CTGCAGGACCCTCTCAGTGGT	0.547000														94			21		0	0	0.016522	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731426	140731426	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:140731426G>A	uc003ljo.2	+	0	1599	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.Q533Q	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	539	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGGACCAGGGCTCCCCCG	0.701000														55			15		0	0	0.020292	0	0
DNAH5	1767	broad.mit.edu	37	5	13700980	13700980	+	Splice_Site	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:13700980C>T	uc003jfd.2	-	78	13534	c.13492_splice	c.e78-1	p.E4498_splice	DNAH5_uc003jfc.2_Splice_Site_p.E666_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4498					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E4498K(1)		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)					CGAGTTATTTCCTATTCAGGG	0.453000									Kartagener syndrome					51			8		0	0	0.003080	0	0
SYNJ2	8871	broad.mit.edu	37	6	158509711	158509711	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:158509711G>A	uc003qqx.2	+	23	3469	c.3363G>A	c.(3361-3363)aaG>aaA	p.K1121K	SYNJ2_uc003qqw.2_Silent_p.K1121K|SYNJ2_uc003qqy.2_Silent_p.K884K|SYNJ2_uc003qqz.2_Silent_p.K738K|SYNJ2_uc003qra.2_Silent_p.K464K	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1121							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGGTGAAAAAGTCGGCTTCAG	0.527000														67			29		0	0	0.007291	0	0
GRHL2	79977	broad.mit.edu	37	8	102589725	102589725	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:102589725G>A	uc010mbu.3	+	6	1311	c.981G>A	c.(979-981)gcG>gcA	p.A327A		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	327						cytoplasm|nucleus	DNA binding	p.A327P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGCATACGGCGAAGCAGAGGG	0.498000														45			11		0	0	0.010729	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767767	77767767	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:77767767C>T	uc003yau.2	+	9	8997	c.8610C>T	c.(8608-8610)agC>agT	p.S2870S	ZFHX4_uc003yaw.1_Silent_p.S2825S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2825						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCTCACAAGCCCATCCATCC	0.498000										HNSCC(33;0.089)				23			5		0	0	0.014758	0	0
FBXL17	64839	broad.mit.edu	37	5	107197446	107197446	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:107197446G>A	uc011cvc.2	-	8	2488	c.2081C>T	c.(2080-2082)cCc>cTc	p.P694L		NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 17 (FBXL17), mRNA.	694										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AGACATGTTGGGGGTCCAGCC	0.582000														33			9		0	0	0.008291	0	0
MLL3	58508	broad.mit.edu	37	7	151945102	151945102	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:151945102G>A	uc003wla.3	-	13	2636	c.2417C>T	c.(2416-2418)tCc>tTc	p.S806F		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	806					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.S806S(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCCAGCAGAGGAACTAAGAGC	0.438000			N		medulloblastoma									578			18		0	0	0.014323	0	0
TTC18	118491	broad.mit.edu	37	10	75101312	75101312	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:75101312C>T	uc009xrc.3	-	6	758	c.637G>A	c.(637-639)Gga>Aga	p.G213R	TTC18_uc001jty.3_Missense_Mutation_p.G213R|TTC18_uc009xrd.1_Missense_Mutation_p.G21R	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	213							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTCAGAGTTCCATTCTTAAAT	0.413000														44			12		0	0	0.016723	0	0
TOMM40	10452	broad.mit.edu	37	19	45406309	45406309	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:45406309C>T	uc002paa.4	+	8	1165	c.969C>T	c.(967-969)atC>atT	p.I323I	TOMM40_uc002ozz.3_3'UTR|TOMM40_uc002ozx.4_Silent_p.I323I|TOMM40_uc002ozy.4_Silent_p.I323I|APOE_uc002pab.3_5'Flank	NM_001128917	NP_006105	O96008	TOM40_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast) (TOMM40), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	323					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		GCAACTGGATCGTGGGTGCCA	0.587000														86			25		0	0	0.024334	0	0
RFPL1	5988	broad.mit.edu	37	22	29837577	29837577	+	Silent	SNP	T	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:29837577T>A	uc003afn.3	+	1	629	c.420T>A	c.(418-420)atT>atA	p.I140I	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	140	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCCTCCTCATTTCTGACGACC	0.512000														58			19		0	0	0.012319	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23833376	23833376	+	Splice_Site	SNP	T	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:23833376T>A	uc003gqs.3	-	3	355	c.235_splice	c.e3-1	p.K79_splice	PPARGC1A_uc003gqt.3_Splice_Site|PPARGC1A_uc011bxp.1_Splice_Site|PPARGC1A_uc010ier.1_Splice_Site	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	79					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATCTATCTTCTGCAGAAAGAG	0.448000														103			14		0	0	0.016723	0	0
ALG5	29880	broad.mit.edu	37	13	37569629	37569629	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:37569629G>A	uc001uvy.3	-	1	238	c.171C>T	c.(169-171)ccC>ccT	p.P57P	ALG5_uc010teq.2_Silent_p.P57P|ALG5_uc010ter.2_Non-coding_Transcript	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA.	57					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		CCCATATGCTGGGTAAAGTTT	0.403000														57			14		0	0	0.020292	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508025	37508025	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:37508025G>A	uc021ppc.1	+	33	3316	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1073K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K1072*(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAGGAAAAGGAAAATAAATA	0.318000														44			18		0	0	0.004990	0	0
KRT26	353288	broad.mit.edu	37	17	38926324	38926324	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:38926324C>T	uc002hvf.3	-	3	778	c.732G>A	c.(730-732)atG>atA	p.M244I		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	244	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GGGTTGCATTCATCTCCACGT	0.483000														67			22		0	0	0.012319	0	0
CYP2C19	1557	broad.mit.edu	37	10	96484139	96484139	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:96484139G>A	uc001kjv.4	+	6	1324	c.998G>A	c.(997-999)aGa>aAa	p.R333K	CYP2C19_uc001kjw.4_Missense_Mutation_p.R274K|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	333					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)	GTAGTTGGCAGAAACCGGAGC	0.473000														68			18		0	0	0.014323	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140794192	140794192	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:140794192G>A	uc003lkl.2	+	0	1450	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.D484N	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	482	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G484V(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCCGGACAGCAAAGA	0.517000														111			8		0	0	0.004482	0	0
MOV10L1	54456	broad.mit.edu	37	22	50580616	50580616	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:50580616G>T	uc003bjj.3	+	15	2260	c.2177G>T	c.(2176-2178)tGg>tTg	p.W726L	MOV10L1_uc003bjk.4_Missense_Mutation_p.W726L|MOV10L1_uc011arp.2_Missense_Mutation_p.W706L|MOV10L1_uc011arq.1_Missense_Mutation_p.W487L|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	726					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ATGAGCGATTGGGGTATGTGC	0.542000											OREG0026672	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			13		7.03913e-09	7.4048e-09	0.013537	1	0
LOXL4	84171	broad.mit.edu	37	10	100017472	100017472	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:100017472C>T	uc001kpa.1	-	7	1346	c.1195G>A	c.(1195-1197)Ggt>Agt	p.G399S		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	399	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TGTTGGCAACCATTCTGGGAC	0.587000														56			22		0	0	0.014323	0	0
NAA25	80018	broad.mit.edu	37	12	112499158	112499158	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:112499158G>A	uc001ttm.3	-	11	1242	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.S367L|NAA25_uc009zwa.2_Missense_Mutation_p.S395L	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	395						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGTTGGTGTCGACAAAGGAAC	0.453000														32			9		0	0	0.006214	0	0
OR13C2	392376	broad.mit.edu	37	9	107367138	107367138	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:107367138G>A	uc011lvq.2	-	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCATGTACATGAAGAGGATGG	0.438000														49			6		0	0	0.001984	0	0
IL6	3569	broad.mit.edu	37	7	22769227	22769227	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:22769227C>G	uc003svj.4	+	3	535	c.419C>G	c.(418-420)gCc>gGc	p.A140G	LOC541472_uc010kun.2_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.A140G|IL6_uc011jyp.1_Missense_Mutation_p.A64G|IL6_uc011jyq.1_Missense_Mutation_p.A194G	NM_000600	NP_000591	P05231	IL6_HUMAN	Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.	140					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of B cell activation|positive regulation of T cell proliferation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	GAGGAACAAGCCAGAGCTGTG	0.478000														50			13		0	0	0.020292	0	0
CLVS1	157807	broad.mit.edu	37	8	62212827	62212827	+	Silent	SNP	T	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:62212827T>C	uc003xuh.3	+	1	765	c.441T>C	c.(439-441)aaT>aaC	p.N147N	CLVS1_uc003xug.2_Silent_p.N147N|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	147	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.A146A(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTGCAGCCAATTGGGATCAGA	0.438000														22			3		0	0	0.004672	0	0
OSBPL7	114881	broad.mit.edu	37	17	45891179	45891179	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:45891179G>A	uc002ilx.1	-	14	1576	c.1373C>T	c.(1372-1374)cCc>cTc	p.P458L	OSBPL7_uc002ilw.1_Missense_Mutation_p.P20L	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	458					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TGGCCCCATGGGTCTCCCTGG	0.682000														18			7		0	0	0.004482	0	0
MYLK2	85366	broad.mit.edu	37	20	30407947	30407947	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:30407947C>T	uc002wwq.2	+	2	173	c.71C>T	c.(70-72)cCc>cTc	p.P24L		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	24					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCTAAAGGTCCCACAGGTGAA	0.602000														35			9		0	0	0.004482	0	0
SCRN2	90507	broad.mit.edu	37	17	45915274	45915274	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:45915274G>A	uc002imd.3	-	7	1340	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	SCRN2_uc002imf.3_3'UTR	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	405					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CTCCCAGAGGGGTGGGGCCCA	0.662000														28			5		0	0	0.001984	0	0
MYLK	4638	broad.mit.edu	37	3	123452564	123452564	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:123452564C>T	uc003ego.3	-	9	1561	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	MYLK_uc011bjw.2_Missense_Mutation_p.E427K|MYLK_uc003egp.3_Missense_Mutation_p.E427K|MYLK_uc003egq.3_Missense_Mutation_p.E427K|MYLK_uc003egr.3_Missense_Mutation_p.E427K|MYLK_uc003egs.3_Missense_Mutation_p.E251K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	427	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.K426N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTTTGATTTTCCTTGACCTCC	0.507000														92			21		0	0	0.021523	0	0
CAPN13	92291	broad.mit.edu	37	2	31010176	31010176	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:31010176C>T	uc021vfn.1	-	0	48	c.16G>A	c.(16-18)Gag>Aag	p.E6K	CAPN13_uc021vfm.1_Missense_Mutation_p.E6K|CAPN13_uc002rnp.1_Missense_Mutation_p.E6K	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	6					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ACTGAAGGCTCCTGGTAATAC	0.502000														9			4		0	0	0.014758	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217899	150217899	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:150217899G>A	uc003whk.3	+	1	967	c.837G>A	c.(835-837)agG>agA	p.R279R	GIMAP7_uc022apu.1_Silent_p.R279R	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	279							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTTAATAGGATTTGGAAGA	0.239000														20			6		0	0	0.003080	0	0
FAM179A	165186	broad.mit.edu	37	2	29256361	29256361	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:29256361C>T	uc010ezl.3	+	15	2508	c.2157C>T	c.(2155-2157)ccC>ccT	p.P719P	FAM179A_uc010ymm.2_Silent_p.P664P|FAM179A_uc002rmr.4_Silent_p.P246P|FAM179A_uc002rms.1_Silent_p.P17P	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	719							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATGAACTTCCCTCTGCCAAAG	0.517000														13			4		0	0	0.009096	0	0
DUSP22	56940	broad.mit.edu	37	6	348139	348139	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:348139C>T	uc003msx.3	+	5	739	c.300C>T	c.(298-300)atC>atT	p.I100I	DUSP22_uc011dhn.1_Silent_p.I100I|DUSP22_uc003msy.1_Silent_p.I57I	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	100	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I100M(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CACTGGTGATCGCATACATCA	0.607000														152			21		0	0	0.010504	0	0
TTC18	118491	broad.mit.edu	37	10	75090940	75090940	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:75090940C>T	uc009xrc.3	-	8	1103	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	TTC18_uc001jty.3_Missense_Mutation_p.E328K|TTC18_uc009xrd.1_Missense_Mutation_p.E136K	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	328							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTTACCTTTTCAGTTTTGCCA	0.403000														18			5		0	0	0.021553	0	0
SUN5	140732	broad.mit.edu	37	20	31585462	31585462	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:31585462C>T	uc002wyi.3	-	5	465	c.372G>A	c.(370-372)tcG>tcA	p.S124S		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	124					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTTTCATTTTCGATGGTAAGT	0.473000														58			9		0	0	0.008291	0	0
KSR2	283455	broad.mit.edu	37	12	118293378	118293378	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:118293378G>A	uc001two.2	-	2	295	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	109					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCGGGGGAGATTTCCTAGA	0.602000														20			7		0	0	0.001984	0	0
CYP2U1	113612	broad.mit.edu	37	4	108870574	108870574	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:108870574C>T	uc003hyp.3	+	3	1440	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	CYP2U1_uc011cfi.2_Missense_Mutation_p.P244S	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	453					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ACATAGAGACCCAGCCATTTG	0.408000														42			4		0	0	0.009096	0	0
MARCO	8685	broad.mit.edu	37	2	119748183	119748183	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:119748183G>A	uc002tln.1	+	12	1214	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	MARCO_uc010yyf.1_Missense_Mutation_p.G283E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	361	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGACAGCAAGGAAGAAAAGGA	0.468000														43			14		0	0	0.004990	0	0
MYH2	4620	broad.mit.edu	37	17	10447086	10447086	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:10447086G>A	uc010coi.3	-	7	811	c.683C>T	c.(682-684)cCc>cTc	p.P228L	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.P228L|MYH2_uc010coj.3_Missense_Mutation_p.P228L	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	228	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCAGTAGGGGGTTGGCACT	0.522000														40			13		0	0	0.016723	0	0
C7	730	broad.mit.edu	37	5	40947853	40947853	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:40947853C>T	uc003jmh.3	+	7	1002	c.888C>T	c.(886-888)atC>atT	p.I296I	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	296	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAAGATTAATCGACCAGTACG	0.408000														52			15		0	0	0.024245	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412386	110412386	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:110412386C>T	uc003yne.3	+	12	1198	c.1094C>T	c.(1093-1095)aCg>aTg	p.T365M		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	365					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.N364K(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGAAAAAACGCCTGGGTAC	0.433000										HNSCC(38;0.096)				148			25		0	0	0.018920	0	0
CD160	11126	broad.mit.edu	37	1	145704307	145704307	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:145704307C>T	uc001eol.1	-	3	328	c.110G>A	c.(109-111)gGa>gAa	p.G37E	CD160_uc001eom.1_Intron|CD160_uc010oyz.1_Intron	NM_007053	NP_008984	O95971	BY55_HUMAN	Homo sapiens CD160 molecule (CD160), mRNA.	37	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TAGTCGCGTTCCTTCCTGGGA	0.458000														36			5		0	0	0.001984	0	0
PDGFRB	5159	broad.mit.edu	37	5	149495355	149495355	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:149495355G>A	uc003lro.3	-	22	3761	c.3292C>T	c.(3292-3294)Cgg>Tgg	p.R1098W	CSF1R_uc003lrm.3_5'Flank|PDGFRB_uc003lrn.1_5'Flank|PDGFRB_uc010jhd.3_Missense_Mutation_p.R937W	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1098					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTTCCGCCCGAGGCGCAGGG	0.687000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									30			10		0	0	0.020292	0	0
DOCK11	139818	broad.mit.edu	37	X	117712602	117712602	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:117712602C>T	uc004eqp.2	+	12	1567	c.1504C>T	c.(1504-1506)Cca>Tca	p.P502S	DOCK11_uc004eqq.2_Missense_Mutation_p.P268S	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	502					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAATTCTGATCCAGTAAAGGT	0.343000														19			5		0	0	0.014758	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481278	142481278	+	Missense_Mutation	SNP	G	A	A	rs143782230	by1000genomes	TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:142481278G>A	uc011ksq.2	+	2	435	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.									p.V118F(1)									CACACCTGCCGTCATCAATGC	0.542000														43			4		0	0	0.008291	0	0
INTS3	65123	broad.mit.edu	37	1	153741373	153741373	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:153741373C>T	uc009wom.3	+	22	2470	c.2249C>T	c.(2248-2250)cCa>cTa	p.P750L	INTS3_uc001fct.3_Missense_Mutation_p.P750L|INTS3_uc001fcu.3_Missense_Mutation_p.P442L|INTS3_uc001fcv.3_Missense_Mutation_p.P544L|INTS3_uc010peb.2_Missense_Mutation_p.P544L|INTS3_uc001fcw.3_Missense_Mutation_p.P263L|INTS3_uc010pec.2_Missense_Mutation_p.P263L|INTS3_uc001fcx.3_Missense_Mutation_p.P47L|INTS3_uc001fcy.3_Missense_Mutation_p.P47L	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	751					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATTTAGTTTCCAGATGAAACC	0.483000														28			4		0	0	0.009096	0	0
PKD1L1	168507	broad.mit.edu	37	7	47913507	47913507	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:47913507C>T	uc003tny.2	-	23	3920	c.3886G>A	c.(3886-3888)Ggc>Agc	p.G1296S		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1296	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGTCCTCGCCCAGACAGTCA	0.507000														36			8		0	0	0.003080	0	0
FAM83D	81610	broad.mit.edu	37	20	37581057	37581058	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:37581057_37581058GG>AA	uc002xjg.3	+	3	1783_1784	c.1742_1743GG>AA	c.(1741-1743)agg>aAA	p.R581K		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	551					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATGCTGTCAAGGAGAACACTCT	0.450000														71			19		0	0	0.004672	0	0
SLC6A11	6538	broad.mit.edu	37	3	10865066	10865066	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:10865066G>A	uc003bvz.3	+	3	646	c.612G>A	c.(610-612)atG>atA	p.M204I	SLC6A11_uc003bvy.1_Missense_Mutation_p.M204I	NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	204					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CCCCTGTCATGGAGTTTTGGG	0.502000														43			16		0	0	0.028581	0	0
RYR2	6262	broad.mit.edu	37	1	237919588	237919588	+	Splice_Site	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:237919588G>A	uc001hyl.1	+	81	11266	c.11146_splice	c.e81-1	p.E3716_splice	RYR2_uc010pya.2_Splice_Site_p.E131_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3716					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGTGTTCAGGAAAAAGAAAT	0.443000														34			4		0	0	0.014758	0	0
ZNF175	7728	broad.mit.edu	37	19	52090840	52090840	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:52090840A>T	uc002pxb.3	+	4	1634	c.1256A>T	c.(1255-1257)tAt>tTt	p.Y419F		NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	Homo sapiens zinc finger protein 175 (ZNF175), mRNA.	419					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GAGAGACAGTATGCATGCAGT	0.438000														33			7		0	0	0.001984	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767066	77767066	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:77767066C>T	uc003yau.2	+	9	8296	c.7909C>T	c.(7909-7911)Cat>Tat	p.H2637Y	ZFHX4_uc003yaw.1_Missense_Mutation_p.H2592Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2592						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W2636*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATGCTTGATCATATTGCCCG	0.512000										HNSCC(33;0.089)				30			7		0	0	0.001984	0	0
MAN1A1	4121	broad.mit.edu	37	6	119525949	119525949	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:119525949G>A	uc003pym.1	-	6	1533	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	364					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GGGGTTTCCTGATAAGTGGCT	0.468000														59			12		0	0	0.010729	0	0
OR2W5	441932	broad.mit.edu	37	1	247654770	247654770	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:247654770T>C	uc001icz.2	+	0	401	c.341T>C	c.(340-342)cTc>cCc	p.L114P		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAGTGCGTCCTCCTGGTTGTC	0.602000														63			10		0	0	0.008291	0	0
SCN2A	6326	broad.mit.edu	37	2	166245390	166245390	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:166245390G>A	uc002udc.3	+	26	5364	c.5074G>A	c.(5074-5076)Gat>Aat	p.D1692N	SCN2A_uc002udd.3_Missense_Mutation_p.D1692N|SCN2A_uc002ude.3_Missense_Mutation_p.D1692N|SCN2A_uc021vry.1_Missense_Mutation_p.D192N	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1692					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGTTGGGATCGATGACATGTT	0.448000														149			24		0	0	0.024334	0	0
PCYT1B	9468	broad.mit.edu	37	X	24625972	24625972	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:24625972C>T	uc004dbi.3	-	2	457	c.224G>A	c.(223-225)aGg>aAg	p.R75K	PCYT1B_uc004dbk.4_Missense_Mutation_p.R75K|PCYT1B_uc004dbj.3_Missense_Mutation_p.R57K	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	75	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TCTGACAGGCCTGTCAGCTGT	0.443000														11			3		0	0	0.014758	0	0
NOTCH4	4855	broad.mit.edu	37	6	32183118	32183118	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:32183118G>T	uc003obb.3	-	11	2045	c.1906C>A	c.(1906-1908)Ccc>Acc	p.P636T	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	636	EGF-like 16.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATCTGCTTGGGCTGGCACAGG	0.572000														231			41		6.21074e-16	6.56749e-16	0.011902	1	0
IGH	0	broad.mit.edu	37	16	33020774	33020774	+	RNA	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:33020774G>A	uc021thd.1	+	0		c.122G>A								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h.																		CAGGCTCCAGGGAAGGGACTG	0.562000														222			39		0	0	0.008740	0	0
HLA-F	3134	broad.mit.edu	37	6	29692182	29692182	+	Silent	SNP	C	T	T	rs138293991	by1000genomes	TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:29692182C>T	uc003nno.4	+	2	691	c.567C>T	c.(565-567)ctC>ctT	p.L189L	HLA-F_uc010jrl.3_Silent_p.L189L|HLA-F_uc003nnm.4_Silent_p.L189L|HLA-F_uc011dlx.1_Silent_p.L189L|HLA-F_uc011dly.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	189	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity	p.L189L(3)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGGAGTTGCTCCGCAGATACT	0.602000														52			8		0	0	0.004482	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458690	120458690	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:120458690G>A	uc001eik.3	-	33	6952	c.6655C>T	c.(6655-6657)Ccc>Tcc	p.P2219S		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2219					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCACTGAGGGAAGCACAGTG	0.572000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					421			113		0	0	0.014410	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38673292	38673292	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:38673292A>T	uc002ohk.3	+	15	4851	c.4342A>T	c.(4342-4344)Aag>Tag	p.K1448*		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1448					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTTCTTCTCCAAGCAGCCTGT	0.607000														76			15		0	0	0.020292	0	0
ACSL6	23305	broad.mit.edu	37	5	131329887	131329887	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:131329887C>T	uc003kvx.2	-	1	216	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.R36Q|ACSL6_uc003kvy.2_Missense_Mutation_p.R36Q|ACSL6_uc003kvz.2_Missense_Mutation_p.R11Q|ACSL6_uc021ydh.1_Missense_Mutation_p.R11Q|ACSL6_uc010jdo.2_Missense_Mutation_p.R11Q|ACSL6_uc003kwa.2_Missense_Mutation_p.R22Q|ACSL6_uc003kwc.1_Missense_Mutation_p.R11Q|ACSL6_uc003kwd.1_Missense_Mutation_p.R11Q|ACSL6_uc010jdn.2_Missense_Mutation_p.R11Q	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	11					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAGGCAGTCGCAGTATCCT	0.547000														22			5		0	0	0.014758	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161538	40161538	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:40161538G>A	uc003ayg.3	-	5	1160	c.909C>T	c.(907-909)atC>atT	p.I303I		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	303								p.I303I(2)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TATTTGTAAAGATACCATCTG	0.383000														75			15		0	0	0.004990	0	0
ATP13A5	344905	broad.mit.edu	37	3	193081925	193081925	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:193081925C>T	uc011bsq.2	-	1	208	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	70					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGTCTGCTTCTTGCAAGGGG	0.527000														97			36		0	0	0.019004	0	0
PCK1	5105	broad.mit.edu	37	20	56138106	56138106	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:56138106C>T	uc002xyn.4	+	4	796	c.633C>T	c.(631-633)ccC>ccT	p.P211P	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	211					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ACAACTGGCCCTGCAACCCGG	0.632000														53			10		0	0	0.008291	0	0
JARID2	3720	broad.mit.edu	37	6	15513580	15513580	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:15513580C>T	uc003nbj.3	+	15	3621	c.3377C>T	c.(3376-3378)cCt>cTt	p.P1126L	JARID2_uc011div.2_Missense_Mutation_p.P954L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	1126					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAGAAAAAGCCTCGAAAGTGG	0.657000														33			12		0	0	0.016723	0	0
PLGLA	285189	broad.mit.edu	37	2	107007416	107007416	+	RNA	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:107007416C>T	uc002tdp.3	+	2		c.265C>T								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		GGGACGATGTCCAAAACAAAA	0.438000														26			3		0	0	0.004672	0	0
IRS2	8660	broad.mit.edu	37	13	110436510	110436510	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:110436510C>T	uc001vqv.3	-	0	2405	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	631					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TCTCCGTAGTCCTCTGGGTAG	0.701000														18			3		0	0	0.009096	0	0
CTSW	1521	broad.mit.edu	37	11	65649973	65649973	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:65649973G>A	uc001ogc.1	+	4	556	c.514G>A	c.(514-516)Gat>Aat	p.D172N		NM_001335	NP_001326	P56202	CATW_HUMAN	Homo sapiens cathepsin W (CTSW), mRNA.	172					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CAGTTTCTGGGATTTTGTGGA	0.627000														45			10		0	0	0.008291	0	0
PPM1E	22843	broad.mit.edu	37	17	57046945	57046946	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:57046945_57046946GG>AA	uc002iwx.3	+	3	956_957	c.829_830GG>AA	c.(829-831)gga>AAa	p.G277K	PPM1E_uc010ddd.3_Missense_Mutation_p.G40K	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	286	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.G276W(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TGGCCATGGGGGAGTAGATGCT	0.495000														58			11		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179433796	179433797	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:179433796_179433797TG>CT	uc021vsy.1	-	274	69583_69584	c.69358_69359CA>AG	c.(69358-69360)cag>AGg	p.Q23120R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Q16815R|TTN_uc021vta.1_Missense_Mutation_p.Q16748R|TTN_uc021vtb.1_Missense_Mutation_p.Q16623R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24047	Ig-like 118.						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)			ATCAGCAGTCTGGGCAGGAAGG	0.436000														91			19		0	0	0.004672	0	0
MTMR7	9108	broad.mit.edu	37	8	17198974	17198974	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:17198974G>A	uc003wxm.3	-	5	869	c.630C>T	c.(628-630)tcC>tcT	p.S210S	MTMR7_uc003wxn.3_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	210	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CACTGAAGCCGGACAGGGGCT	0.577000														38			12		0	0	0.013537	0	0
LOC442459	442459	broad.mit.edu	37	X	98974871	98974871	+	RNA	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:98974871G>A	uc011mrd.1	-	7		c.1472C>T								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		AGACCAGCTGGAAACCTGGAG	0.478000														19			3		0	0	0.004672	0	0
C3	718	broad.mit.edu	37	19	6702496	6702496	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:6702496C>T	uc002mfm.3	-	17	2402	c.2340G>A	c.(2338-2340)gaG>gaA	p.E780E		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	780					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTTTCGGTGGCTCTTTCAAGT	0.527000														72			16		0	0	0.004990	0	0
RNF157	114804	broad.mit.edu	37	17	74163764	74163764	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:74163764C>T	uc002jqz.3	-	3	480	c.411G>A	c.(409-411)caG>caA	p.Q137Q	RNF157_uc002jra.3_Silent_p.Q137Q	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	137							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CTTCCGTGGCCTGGTAATAGA	0.498000														73			7		0	0	0.001984	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864583	102864583	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:102864583C>T	uc022cbu.1	+	0	591	c.591C>T	c.(589-591)atC>atT	p.I197I	TCEAL3_uc004ekq.3_Silent_p.I197I|TCEAL3_uc004ekr.3_Silent_p.I197I	NM_032926	NP_116315	Q969E4	TCAL3_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 2, mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						TACACGATATCCCATACCTTT	0.527000														64			7		0	0	0.003080	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948397	82948397	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:82948397C>T	uc003kim.3	-	1	418	c.347G>A	c.(346-348)gGa>gAa	p.G116E	HAPLN1_uc003kin.3_Missense_Mutation_p.G116E	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	116	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.G116R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ATCACTGCCTCCCTTCAGAAA	0.428000														80			7		0	0	0.003080	0	0
CRNN	49860	broad.mit.edu	37	1	152383215	152383215	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:152383215C>T	uc001ezx.2	-	2	417	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	115					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.G114S(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGTCCTTCGCCCAGCTCC	0.617000														230			44		0	0	0.014410	0	0
PTPN3	5774	broad.mit.edu	37	9	112172648	112172648	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:112172648G>A	uc004bed.2	-	14	1473	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	PTPN3_uc004beb.2_Missense_Mutation_p.S323L|PTPN3_uc004bec.2_Missense_Mutation_p.S278L|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.S409L|PTPN3_uc011lwh.1_Missense_Mutation_p.S300L|PTPN3_uc011lwd.1_5'UTR|PTPN3_uc011lwe.1_Missense_Mutation_p.S167L|PTPN3_uc011lwf.1_Missense_Mutation_p.S122L	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	454					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						AGAACTGGATGACTTCTGGGT	0.468000														55			6		0	0	0.021553	0	0
SLC34A2	10568	broad.mit.edu	37	4	25673274	25673274	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:25673274C>T	uc003grr.3	+	8	1060	c.979C>T	c.(979-981)Ctc>Ttc	p.L327F	SLC34A2_uc003grs.3_Missense_Mutation_p.L326F|SLC34A2_uc010iev.3_Missense_Mutation_p.L326F	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	327					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTCCCCTTCCCTCTGTTGGAC	0.502000			T	ROS1	NSCLC									164			14		0	0	0.020292	0	0
SCN3A	6328	broad.mit.edu	37	2	165994598	165994598	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:165994598G>A	uc002ucx.3	-	14	2674	c.2182C>T	c.(2182-2184)Cca>Tca	p.P728S	SCN3A_uc002ucy.3_Missense_Mutation_p.P679S|SCN3A_uc002ucz.3_Missense_Mutation_p.P679S|SCN3A_uc002uda.1_Missense_Mutation_p.P548S|SCN3A_uc002udb.1_Missense_Mutation_p.P548S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	728						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TACCAGCATGGCGGACATTTC	0.348000														29			12		0	0	0.016723	0	0
MYH9	4627	broad.mit.edu	37	22	36698617	36698617	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:36698617G>A	uc003apg.3	-	19	2727	c.2496C>T	c.(2494-2496)acC>acT	p.T832T	MYH9_uc003aph.1_Silent_p.T696T	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	832					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CACGCACCTTGGTGAAGAGCC	0.567000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					48			15		0	0	0.004990	0	0
TYW1B	441250	broad.mit.edu	37	7	72193812	72193812	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:72193812C>G	uc011kej.2	-	10	1326	c.1167G>C	c.(1165-1167)caG>caC	p.Q389H	TYW1B_uc011keh.1_Missense_Mutation_p.Q227H|TYW1B_uc011kei.2_Missense_Mutation_p.Q16H|TYW1B_uc011kek.1_Non-coding_Transcript	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	390					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TAATCATGTTCTGATGGTTTT	0.418000														33			8		0	0	0.003080	0	0
GALNT2	2590	broad.mit.edu	37	1	230390970	230390970	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:230390970C>T	uc010pwa.1	+	10	1088	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	GALNT2_uc010pvy.1_Missense_Mutation_p.S301L|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	339	Catalytic subdomain B.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TCAGAGATCTCGTTCCGCGTG	0.617000														88			21		0	0	0.014323	0	0
FPR3	2359	broad.mit.edu	37	19	52327094	52327094	+	Silent	SNP	A	G	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:52327094A>G	uc002pxt.1	+	1	277	c.93A>G	c.(91-93)ctA>ctG	p.L31L	FPR3_uc021uyq.1_Silent_p.L31L	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	31					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.L30L(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TCTCATTGCTAGTCCACGGAG	0.542000														49			11		0	0	0.008291	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183905	11183905	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:11183905G>A	uc001qzo.1	-	0	102	c.30C>T	c.(28-30)tcC>tcT	p.S10S	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176885	NP_795366	P59538	T2R31_HUMAN	Homo sapiens taste receptor, type 2, member 31 (TAS2R31), mRNA.	10					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						CTACCACACTGGAAAAAATGA	0.383000														37			7		0	0	0.004482	0	0
ST7L	54879	broad.mit.edu	37	1	113124629	113124629	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:113124629G>A	uc001ecd.3	-	8	1359	c.1054C>T	c.(1054-1056)Cta>Tta	p.L352L	ST7L_uc009wgh.3_Intron|ST7L_uc001ecc.3_Silent_p.L169L|ST7L_uc010owg.2_Silent_p.L287L|ST7L_uc010owh.2_Intron|ST7L_uc001ecf.3_Silent_p.L335L|ST7L_uc001ece.3_Silent_p.L352L|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Silent_p.L287L|ST7L_uc001ech.3_Silent_p.L335L|ST7L_uc001eci.3_Silent_p.L352L|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Silent_p.L335L	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	352					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATTTTGCTAGGACTGCCTGA	0.323000														27			5		0	0	0.021553	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254885	30254885	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:30254885G>A	uc022bug.1	+	0	844	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	MAGEB3_uc004dca.2_Missense_Mutation_p.E282K	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	282	MAGE.							p.A281P(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AGCCCATGCTGAAACCAGCAA	0.493000														51			5		0	0	0.021553	0	0
ITPR1	3708	broad.mit.edu	37	3	4722316	4722316	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:4722316C>T	uc003bqc.3	+	23	3352	c.3002C>T	c.(3001-3003)tCc>tTc	p.S1001F	ITPR1_uc021wsi.1_Missense_Mutation_p.S1007F|ITPR1_uc021wsj.1_Missense_Mutation_p.S992F|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1016					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAAAGCAATTCCCAGACTTCA	0.413000														37			9		0	0	0.006214	0	0
TET1	80312	broad.mit.edu	37	10	70405330	70405330	+	Silent	SNP	A	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:70405330A>T	uc001jok.4	+	3	3349	c.2844A>T	c.(2842-2844)ggA>ggT	p.G948G		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	948					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACTTACAGGGAGAGCCACCAA	0.428000														30			9		0	0	0.006214	0	0
PDK1	5163	broad.mit.edu	37	2	173451010	173451010	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:173451010G>A	uc002uhs.3	+	8	1050	c.950G>A	c.(949-951)aGt>aAt	p.S317N	PDK1_uc010zdz.1_Missense_Mutation_p.S162N|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhq.1_Missense_Mutation_p.S337N|PDK1_uc010zeb.2_Missense_Mutation_p.S337N	NM_002610	NP_002601	Q15118	PDK1_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA.	317	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CCTTAGATGAGTGACCGAGGA	0.453000									Autosomal Dominant Polycystic Kidney Disease					41			4		0	0	0.009096	0	0
DSG2	1829	broad.mit.edu	37	18	29102104	29102104	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr18:29102104G>A	uc002kwu.4	+	5	770	c.582G>A	c.(580-582)tcG>tcA	p.S194S		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	194	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S194S(2)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCCTGAATTCGAAAATTTCCT	0.368000														25			5		0	0	0.021553	0	0
ZNF560	147741	broad.mit.edu	37	19	9578257	9578257	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:9578257C>T	uc002mlp.1	-	9	1576	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R	ZNF560_uc010dwr.1_Missense_Mutation_p.G350R	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GGCTTCTCTCCATTATGAACT	0.398000														174			33		0	0	0.017118	0	0
DNAH10	196385	broad.mit.edu	37	12	124323032	124323032	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:124323032G>A	uc001uft.4	+	27	4603	c.4578G>A	c.(4576-4578)gtG>gtA	p.V1526V		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1526	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGACCCCGTGATCAAGAGGT	0.547000														15			4		0	0	0.009096	0	0
ODZ1	10178	broad.mit.edu	37	X	123699396	123699396	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:123699396C>T	uc010nqy.3	-	11	2156	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	ODZ1_uc011muj.2_Missense_Mutation_p.E697K|ODZ1_uc004euj.3_Missense_Mutation_p.E698K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	698	EGF-like 6.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTACCACACTCCATGGTACAC	0.408000														29			7		0	0	0.006214	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825576	52825576	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:52825576C>T	uc004drc.1	-	1	171	c.171G>A	c.(169-171)agG>agA	p.R57R		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	57										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TCTTAGTCTTCCTGTAGCACA	0.428000														52			6		0	0	0.021553	0	0
SBSN	374897	broad.mit.edu	37	19	36017757	36017757	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:36017757G>A	uc002oad.2	-	0	1497	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	SBSN_uc002oae.2_Missense_Mutation_p.A133V|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	133						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCTTGGACCGCTTTGTCTGC	0.607000														16			12		0	0	0.013537	0	0
SALL4	57167	broad.mit.edu	37	20	50407356	50407356	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:50407356C>T	uc002xwh.4	-	1	1767	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	556					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAATGTTCTCCACCAACTGC	0.542000														102			21		0	0	0.014323	0	0
SMARCA5	8467	broad.mit.edu	37	4	144466732	144466732	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:144466732A>C	uc003ijg.3	+	17	2855	c.2393A>C	c.(2392-2394)tAc>tCc	p.Y798S		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	798					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ACTATTGGGTACAAGGTAATT	0.318000														39			4		0	0	0.009096	0	0
SPOCD1	90853	broad.mit.edu	37	1	32264052	32264052	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:32264052G>A	uc001bts.1	-	7	2077	c.2019C>T	c.(2017-2019)ccC>ccT	p.P673P	SPOCD1_uc001btu.3_Silent_p.P673P|SPOCD1_uc001btv.3_Silent_p.P166P|SPOCD1_uc021oks.1_5'UTR|SPOCD1_uc001btw.1_5'UTR	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	673	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCAGGTTCCTGGGGTCCCGCA	0.617000														37			14		0	0	0.004990	0	0
AEBP1	165	broad.mit.edu	37	7	44151192	44151192	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:44151192C>T	uc003tkb.3	+	14	2108	c.1803C>T	c.(1801-1803)gcC>gcT	p.A601A	AEBP1_uc003tkc.4_Silent_p.A176A|AEBP1_uc003tkd.3_5'UTR	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	601	Interaction with MAPK1 and MAPK3 (By similarity).|Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGATCTATGCCATGGAGATCT	0.617000														37			5		0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179441825	179441825	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:179441825C>T	uc021vsy.1	-	272	61758	c.61533G>A	c.(61531-61533)aaG>aaA	p.K20511K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K14206K|TTN_uc021vta.1_Silent_p.K14139K|TTN_uc021vtb.1_Silent_p.K14014K|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21438							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)			TGGTTTCTCTCTTTTCAAGTA	0.423000														61			14		0	0	0.016723	0	0
NBEA	26960	broad.mit.edu	37	13	36223797	36223797	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:36223797C>T	uc021rid.1	+	50	8247	c.7713C>T	c.(7711-7713)ttC>ttT	p.F2571F	NBEA_uc021ric.1_Silent_p.F2568F|NBEA_uc010abi.3_Silent_p.F1227F|NBEA_uc010tee.1_Silent_p.F364F|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Silent_p.F364F|NBEA_uc001uvd.3_Silent_p.F149F	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2571						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AACAGTGTTTCCTTCCACAGA	0.418000														146			32		0	0	0.017118	0	0
IL2RG	3561	broad.mit.edu	37	X	70328136	70328136	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:70328136C>T	uc004dyw.2	-	6	1007	c.915G>A	c.(913-915)ggG>ggA	p.G305G	CXorf65_uc011mpo.2_5'Flank|CXorf65_uc011mpp.2_5'Flank|IL2RG_uc004dyv.2_Silent_p.G34G|IL2RG_uc004dyx.2_Silent_p.G115G	NM_000206	NP_000197	P31785	IL2RG_HUMAN	Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA.	305					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CCGAAAAGTTCCCGTGGTATT	0.537000									Severe Combined Immunodeficiency, X-linked					50			5		0	0	0.001984	0	0
MRPS15	64960	broad.mit.edu	37	1	36921790	36921790	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:36921790G>A	uc001cas.2	-	6	798	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W		NM_031280	NP_112570	P82914	RT15_HUMAN	Homo sapiens mitochondrial ribosomal protein S15 (MRPS15), nuclear gene encoding mitochondrial protein, mRNA.	212					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACTCGTACCCGAATGCACAGA	0.547000														39			6		0	0	0.003080	0	0
CHD4	1108	broad.mit.edu	37	12	6702357	6702357	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:6702357G>A	uc001qpo.3	-	16	2716	c.2552C>T	c.(2551-2553)tCc>tTc	p.S851F	CHD4_uc001qpn.3_Missense_Mutation_p.S844F|CHD4_uc001qpp.3_Missense_Mutation_p.S848F	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	851	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CAATTCATAGGATGTCAGCAG	0.468000														51			6		0	0	0.001984	0	0
CRISP1	167	broad.mit.edu	37	6	49815925	49815925	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:49815925G>A	uc003ozw.2	-	3	362	c.283C>T	c.(283-285)Cca>Tca	p.P95S	CRISP1_uc003ozx.2_Missense_Mutation_p.P95S|CRISP1_uc021zaj.1_Missense_Mutation_p.P95S	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	95					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CACTTACTTGGAAGTCTCCTC	0.373000														73			15		0	0	0.024245	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477438	110477438	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:110477438G>A	uc003yne.3	+	48	8481	c.8377G>A	c.(8377-8379)Gaa>Aaa	p.E2793K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2793					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGGGAACATGAAATGGTAAT	0.388000										HNSCC(38;0.096)				30			5		0	0	0.003080	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351423	60351423	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:60351423G>A	uc002izq.2	-	1	166	c.54C>T	c.(52-54)atC>atT	p.I18I	TBC1D3P2_uc010woz.2_Non-coding_Transcript					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						ATTTCATAATGATGTCCTCTC	0.532000														243			35		0	0	0.021022	0	0
IGDCC4	57722	broad.mit.edu	37	15	65682535	65682535	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr15:65682535G>A	uc002aou.1	-	12	2576	c.2366C>T	c.(2365-2367)cCc>cTc	p.P789L	IGDCC4_uc002aot.1_Missense_Mutation_p.P377L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	789	Fibronectin type-III 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GAGCCCCCAGGGGCTGAAGCG	0.517000														32			11		0	0	0.013537	0	0
DCAF6	55827	broad.mit.edu	37	1	168012370	168012370	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:168012370G>A	uc001gew.3	+	11	1957	c.1604G>A	c.(1603-1605)aGt>aAt	p.S535N	DCAF6_uc001gex.3_Missense_Mutation_p.S612N|DCAF6_uc010plk.2_Missense_Mutation_p.S581N|DCAF6_uc001gev.3_Missense_Mutation_p.S555N|DCAF6_uc001gey.3_Missense_Mutation_p.S408N|DCAF6_uc001gez.3_5'UTR	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	535					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	p.S535C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAAGGAGACAGTGAAACAAGT	0.408000														37			11		0	0	0.010729	0	0
ZIM3	114026	broad.mit.edu	37	19	57646858	57646858	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:57646858C>T	uc002qnz.1	-	4	1233	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCTCACATTCATTACACTGA	0.383000														86			19		0	0	0.008871	0	0
MRPL4	51073	broad.mit.edu	37	19	10367430	10367430	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:10367430G>A	uc002mnm.3	+	5	528	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	MRPL4_uc002mnn.3_Missense_Mutation_p.R125Q|MRPL4_uc002mno.3_Missense_Mutation_p.R125Q	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	125					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GGCGGTGGCCGGAAGCCTTGG	0.687000														106			4		0	0	0.009096	0	0
LPPR2	64748	broad.mit.edu	37	19	11474874	11474875	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:11474874_11474875GG>AA	uc002mrf.2	+	8	1302_1303	c.926_927GG>AA	c.(925-927)cgg>cAA	p.R309Q	LPPR2_uc002mre.2_Missense_Mutation_p.G329N|LPPR2_uc010dxy.2_Missense_Mutation_p.R141Q	NM_001170635	NP_001164106	Q96GM1	LPPR2_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA.	170						integral to membrane	phosphatidate phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	6						ACACCGGCACGGCTCACCCCAT	0.644000														95			13		0	0	0.004672	0	0
RXFP2	122042	broad.mit.edu	37	13	32366091	32366091	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:32366091G>A	uc001utt.3	+	14	1365	c.1294G>A	c.(1294-1296)Gga>Aga	p.G432R	RXFP2_uc010aba.3_Missense_Mutation_p.G408R	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	432						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)		TACCTGCTTTGGAAATCTTTT	0.373000														41			5		0	0	0.021553	0	0
DLD	1738	broad.mit.edu	37	7	107558469	107558469	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:107558469C>T	uc003vet.3	+	11	1447	c.1337C>T	c.(1336-1338)tCg>tTg	p.S446L	DLD_uc011kmg.2_Missense_Mutation_p.S398L|DLD_uc011kmh.2_Missense_Mutation_p.S423L|DLD_uc011kmi.2_Missense_Mutation_p.S347L	NM_000108	NP_000099	P09622	DLDH_HUMAN	Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	446					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	GGGCAGAAATCGACAGACAGA	0.408000														51			11		0	0	0.008291	0	0
MTMR4	9110	broad.mit.edu	37	17	56581150	56581150	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:56581150G>A	uc002iwj.2	-	14	1876	c.1766C>T	c.(1765-1767)tCc>tTc	p.S589F		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	589						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCCACTGGGGAAAGGTAAAG	0.527000														82			25		0	0	0.021523	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959872	102959872	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:102959872C>T	uc002tbu.1	+	7	1238	c.967C>T	c.(967-969)Cca>Tca	p.P323S	IL1RL1_uc010ywa.2_Missense_Mutation_p.P206S|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.P323S	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	323					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TAGGAAAAATCCAAGTAAGGA	0.448000														94			15		0	0	0.006122	0	0
FBXO31	79791	broad.mit.edu	37	16	87364906	87364906	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:87364906G>A	uc002fjw.3	-	8	1652	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	FBXO31_uc010vot.2_Silent_p.S364S|FBXO31_uc002fjv.3_Silent_p.S428S	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	536					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGAGGTGAGGGACTGAATGT	0.582000														22			8		0	0	0.003080	0	0
KPNA2	3838	broad.mit.edu	37	17	66040459	66040459	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:66040459A>C	uc002jgk.3	+	8	1319	c.1187A>C	c.(1186-1188)gAa>gCa	p.E396A	KPNA2_uc002jgl.3_Missense_Mutation_p.E396A	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	396	NLS binding site (minor) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACACAAAAGGAAGCTGTGTGG	0.378000														103			35		0	0	0.023175	0	0
ABCC8	6833	broad.mit.edu	37	11	17491762	17491762	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:17491762C>T	uc001mnc.3	-	2	424	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ABCC8_uc010rcy.1_Missense_Mutation_p.E100K|ABCC8_uc021qej.1_Non-coding_Transcript	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	100					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)	TGGTGGGATTCGGTCACCCTG	0.527000														188			70		0	0	0.014410	0	0
LGSN	51557	broad.mit.edu	37	6	63990239	63990239	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:63990239T>G	uc003peh.3	-	3	1251	c.1217A>C	c.(1216-1218)gAa>gCa	p.E406A	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	406					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TAGTTTATTTTCTATCCGGGT	0.448000														70			22		0	0	0.012319	0	0
CHID1	66005	broad.mit.edu	37	11	902963	902963	+	Splice_Site	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:902963G>A	uc010qwu.1	-	3	464	c.351_splice	c.e3+1	p.P117_splice	CHID1_uc010qwv.2_Splice_Site_p.P148_splice|CHID1_uc001lsn.3_Splice_Site_p.P112_splice|CHID1_uc001lso.3_Splice_Site_p.P87_splice|CHID1_uc001lsm.3_Splice_Site_p.P87_splice|CHID1_uc001lsp.3_Splice_Site_p.P87_splice|CHID1_uc010qww.2_Splice_Site_p.P87_splice	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA.	87					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCAACTTACTGGAGTGACATA	0.607000														16			5		0	0	0.014758	0	0
EWSR1	2130	broad.mit.edu	37	22	29694811	29694811	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:29694811C>T	uc003aet.3	+	13	1834	c.1506C>T	c.(1504-1506)ccC>ccT	p.P502P	EWSR1_uc003aev.3_Silent_p.P507P|EWSR1_uc003aex.3_Silent_p.P501P|EWSR1_uc003aew.3_Silent_p.P446P|EWSR1_uc003aey.3_Silent_p.P297P|EWSR1_uc003aez.3_Silent_p.P163P	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	502	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding	p.G501A(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAAGAGGACCCCGGGGTTCCC	0.602000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""									97			13		0	0	0.024245	0	0
ZAN	7455	broad.mit.edu	37	7	100334225	100334225	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:100334225G>C	uc003uwj.3	+	3	391	c.226G>C	c.(226-228)Ggg>Cgg	p.G76R	ZAN_uc003uwk.3_Missense_Mutation_p.G76R|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	76	MAM 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGGCTCCACCGGGGCCCCCGG	0.642000														21			14		0	0	0.024245	0	0
TNR	7143	broad.mit.edu	37	1	175335040	175335040	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:175335040C>T	uc001gkp.1	-	8	2369	c.2288G>A	c.(2287-2289)aGc>aAc	p.S763N	TNR_uc009wwu.1_Missense_Mutation_p.S763N	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	763	Fibronectin type-III 5.				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)					GGACTCCAAGCTCTGCTGCCG	0.532000														66			18		0	0	0.008871	0	0
USH2A	7399	broad.mit.edu	37	1	216465538	216465538	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:216465538C>T	uc001hku.1	-	9	2206	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	USH2A_uc001hkv.3_Missense_Mutation_p.D607N	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	607	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCTCACAATCATCACAAACT	0.403000										HNSCC(13;0.011)				42			9		0	0	0.006214	0	0
CDH6	1004	broad.mit.edu	37	5	31305281	31305281	+	Splice_Site	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:31305281C>T	uc003jhe.2	+	7	1360	c.1000_splice	c.e7-1	p.L334_splice	CDH6_uc003jhd.2_Splice_Site_p.L334_splice	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	334	Cadherin 3.				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						CAACCTCAAGCTCTTGGACTT	0.423000														52			19		0	0	0.008871	0	0
GBP3	2635	broad.mit.edu	37	1	89480263	89480263	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:89480263C>T	uc001dmt.3	-	3	600	c.395G>A	c.(394-396)gGa>gAa	p.G132E	GBP3_uc010oss.2_Missense_Mutation_p.G53E|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Missense_Mutation_p.G132E	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	132						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GTTGATGGTTCCCATGCTATT	0.522000														76			26		0	0	0.007291	0	0
MFSD4	148808	broad.mit.edu	37	1	205554035	205554035	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:205554035G>A	uc001hcv.4	+	4	977	c.891G>A	c.(889-891)agG>agA	p.R297R	MFSD4_uc010prk.2_Silent_p.R210R|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.R242R	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	297					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCTGCCAAAGGAAGAACCTCA	0.587000											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		91			26		0	0	0.007291	0	0
PBXIP1	57326	broad.mit.edu	37	1	154919184	154919184	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:154919184G>A	uc001ffr.3	-	9	1025	c.966C>T	c.(964-966)gcC>gcT	p.A322A	PBXIP1_uc001ffs.3_Silent_p.A293A|PBXIP1_uc010pep.2_Silent_p.A167A	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	322					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.A322V(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCGCTGGAAGGCTTCGCCCT	0.667000														23			5		0	0	0.014758	0	0
TSGA10	80705	broad.mit.edu	37	2	99725886	99725886	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:99725886G>A	uc002szg.4	-	3	645	c.17C>T	c.(16-18)tCt>tTt	p.S6F	TSGA10_uc002szh.4_Missense_Mutation_p.S6F|TSGA10_uc002szi.4_Missense_Mutation_p.S6F|TSGA10_uc010fin.1_Missense_Mutation_p.S6F|TSGA10_uc010yvn.1_Missense_Mutation_p.S6F	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	6					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TGGACTTTTAGACCTACTTCG	0.398000														41			12		0	0	0.016723	0	0
OR8D1	283159	broad.mit.edu	37	11	124180174	124180174	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:124180174C>T	uc010sag.2	-	0	489	c.489G>A	c.(487-489)atG>atA	p.M163I		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACAGTTTCATCATGGCACTTG	0.468000														14			4		0	0	0.014758	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777288	6777288	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:6777288A>C	uc011jxb.1	+	4	1342	c.568A>C	c.(568-570)Aca>Cca	p.T190P	PMS2CL_uc003squ.3_Non-coding_Transcript|PMS2CL_uc003sqv.1_Non-coding_Transcript					Homo sapiens PMS2 C-terminal like pseudogene (PMS2CL), non-coding RNA.																		ATCCCCAAACACAAAAGTGTT	0.393000														49			8		0	0	0.003080	0	0
MTMR4	9110	broad.mit.edu	37	17	56573397	56573397	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:56573397G>A	uc002iwj.2	-	15	2216	c.2106C>T	c.(2104-2106)taC>taT	p.Y702Y		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	702						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAAGCAGTTTGTAACTTGGAG	0.483000														202			26		0	0	0.007291	0	0
C1orf114	57821	broad.mit.edu	37	1	169388387	169388387	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:169388387C>T	uc001gga.1	-	3	1247	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	C1orf114_uc001gfz.1_Missense_Mutation_p.R360Q|C1orf114_uc009wvq.1_Missense_Mutation_p.R360Q|C1orf114_uc001ggb.3_Missense_Mutation_p.R360Q	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	360								p.R360Q(2)|p.R360*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TTCTATTTTTCGTCGCTCTTC	0.303000														18			5		0	0	0.014758	0	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:49395482G>C	uc021wxw.1	-	0	310	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_uc021wxx.1_Missense_Mutation_p.P77R	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	77					UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion	cytosol|mitochondrion	SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000														28			3		0	0	0.009096	0	0
EDC4	23644	broad.mit.edu	37	16	67910468	67910468	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:67910468C>G	uc002eur.3	+	2	556	c.317C>G	c.(316-318)tCt>tGt	p.S106C	EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.S38C|EDC4_uc002eus.3_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	106					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		AGCAGTGACTCTAGCATTTCA	0.527000														37			3		0	0	0.014758	0	0
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:7578555C>T	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		CAGGGGAGTACTGTAGGAAGA	0.552000		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)				11			6		0	0	0.021553	0	0
ZNF831	128611	broad.mit.edu	37	20	57829475	57829475	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:57829475G>A	uc002yan.3	+	4	4711	c.4711G>A	c.(4711-4713)Gct>Act	p.A1571T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1571						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGAAATACCAGCTTCAGGACC	0.483000														56			10		0	0	0.008291	0	0
ARSF	416	broad.mit.edu	37	X	3030371	3030371	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:3030371C>T	uc022brz.1	+	10	1683	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	ARSF_uc004cre.2_Missense_Mutation_p.S516F|ARSF_uc004crf.2_Missense_Mutation_p.S516F	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	516						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCTCAGAGTCCACACCCCTG	0.547000														75			9		0	0	0.006214	0	0
ATXN1	6310	broad.mit.edu	37	6	16327065	16327065	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:16327065G>A	uc003nbt.3	-	7	2448	c.1477C>T	c.(1477-1479)Ccg>Tcg	p.P493S	ATXN1_uc010jpi.3_Missense_Mutation_p.P493S|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	493					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CTGCCGACCGGGATGAGCAGG	0.667000														148			26		0	0	0.006320	0	0
OR4K17	390436	broad.mit.edu	37	14	20586336	20586336	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:20586336G>A	uc001vwo.1	+	0	771	c.771G>A	c.(769-771)aaG>aaA	p.K257K		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TAACCATTAAGAACCACTCTC	0.418000														50			16		0	0	0.004990	0	0
C6	729	broad.mit.edu	37	5	41155163	41155163	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:41155163G>A	uc003jmk.2	-	13	2222	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	C6_uc003jml.1_Missense_Mutation_p.S671L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	671	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGTAAGGCATGAAATTTCAAC	0.398000														41			10		0	0	0.006214	0	0
COL11A1	1301	broad.mit.edu	37	1	103471395	103471395	+	Splice_Site	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:103471395C>T	uc001dum.3	-	18	2199	c.1881_splice	c.e18+1	p.R627_splice	COL11A1_uc001duk.3_Splice_Site|COL11A1_uc001dul.3_Splice_Site_p.R615_splice|COL11A1_uc001dun.3_Splice_Site_p.R576_splice|COL11A1_uc009weh.3_Splice_Site_p.R499_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	615	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTATCTTACCCTGTGACCTTT	0.343000														72			22		0	0	0.018920	0	0
RPRD2	23248	broad.mit.edu	37	1	150444375	150444375	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:150444375C>T	uc009wlr.3	+	10	3152	c.2951C>T	c.(2950-2952)cCc>cTc	p.P984L	RPRD2_uc010pcc.1_Silent_p.S911S|RPRD2_uc001eup.4_Missense_Mutation_p.P958L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	984							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTTGCCGCTCCCACGGGTCAC	0.547000														233			52		0	0	0.014410	0	0
CD1A	909	broad.mit.edu	37	1	158224917	158224917	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:158224917C>T	uc001frt.3	+	1	635	c.102C>T	c.(100-102)tcC>tcT	p.S34S	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	34					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane		p.A33T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GGATCGCATCCTTTTACAACC	0.478000														98			14		0	0	0.020292	0	0
ZNF701	55762	broad.mit.edu	37	19	53086410	53086410	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:53086410T>A	uc010ydn.2	+	4	1359	c.1296T>A	c.(1294-1296)gaT>gaA	p.D432E	ZNF701_uc002pzs.2_Missense_Mutation_p.D366E|ZNF701_uc021uyw.1_Missense_Mutation_p.D432E	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TCAGACGTGATTCACACCTGG	0.398000														46			7		0	0	0.004482	0	0
FLNC	2318	broad.mit.edu	37	7	128480100	128480100	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:128480100G>C	uc003vnz.4	+	8	1644	c.1435G>C	c.(1435-1437)Gcc>Ccc	p.A479P	FLNC_uc003voa.4_Missense_Mutation_p.A479P	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	479					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGCCTGCCGCGCCTCTGGGCG	0.642000														116			28		0	0	0.013726	0	0
GRIA2	2891	broad.mit.edu	37	4	158254097	158254097	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:158254097C>T	uc003ipm.4	+	6	1468	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	GRIA2_uc011cit.2_Missense_Mutation_p.P290S|GRIA2_uc003ipl.4_Missense_Mutation_p.P337S|GRIA2_uc003ipk.4_Missense_Mutation_p.P290S|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	337					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	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(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CCCAGCAGTGCCCTGGGGACA	0.458000														41			8		0	0	0.003080	0	0
SULF1	23213	broad.mit.edu	37	8	70539458	70539458	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:70539458C>T	uc003xyg.2	+	14	2425	c.1864C>T	c.(1864-1866)Ccc>Tcc	p.P622S	SULF1_uc010lza.1_Missense_Mutation_p.P622S|SULF1_uc003xyd.2_Missense_Mutation_p.P622S|SULF1_uc003xye.2_Missense_Mutation_p.P622S|SULF1_uc003xyf.2_Missense_Mutation_p.P622S|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_5'Flank	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	622					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.P622P(2)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTTTATTCTTCCCAATGACTC	0.378000														17			4		0	0	0.014758	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664277	169664277	+	RNA	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:169664277G>A	uc011bpp.2	-	1		c.3526C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		TGTTGCACAGGATCTTGTTGT	0.517000														37			12		0	0	0.013537	0	0
ESX1	80712	broad.mit.edu	37	X	103495484	103495484	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:103495484C>T	uc004ely.3	-	3	715	c.646G>A	c.(646-648)Gac>Aac	p.D216N		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	216					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						AAGAACATGTCCAAAGGGTGG	0.507000														114			16		0	0	0.028581	0	0
GSPT2	23708	broad.mit.edu	37	X	51488447	51488447	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:51488447C>T	uc004dpl.3	+	0	1967	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	575					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GACCCCGCTTCGTGAAACAAG	0.413000														44			10		0	0	0.008291	0	0
GRIA1	2890	broad.mit.edu	37	5	153190641	153190642	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:153190641_153190642CC>TT	uc011dcy.2	+	15	2634_2635	c.2607_2608CC>TT	c.(2605-2610)ctcccc>ctTTcc	p.P870S	GRIA1_uc003lva.4_Missense_Mutation_p.P860S|GRIA1_uc003luy.4_Missense_Mutation_p.P860S|GRIA1_uc003luz.4_Missense_Mutation_p.P765S|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.P780S|GRIA1_uc011dcx.2_Missense_Mutation_p.P791S|GRIA1_uc011dcz.2_Missense_Mutation_p.P870S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	860					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)	CATCGACCCTCCCCCGCAACAG	0.584000														53			8		0	0	0.004672	0	0
MPP7	143098	broad.mit.edu	37	10	28409131	28409131	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:28409131G>A	uc001iua.1	-	11	1283	c.879C>T	c.(877-879)ttC>ttT	p.F293F	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.F293F|MPP7_uc009xla.2_Silent_p.F293F|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	293	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ACCTTTCCTGGAAATGCTTTG	0.438000														33			8		0	0	0.003080	0	0
KRTAP19-8	728299	broad.mit.edu	37	21	32410639	32410639	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr21:32410639C>T	uc010glt.3	-	0	157	c.124G>A	c.(124-126)Gga>Aga	p.G42R		NM_001099219	NP_001092689	Q3LI54	KR198_HUMAN	Homo sapiens keratin associated protein 19-8 (KRTAP19-8), mRNA.	42						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						CCATAGCCTCCGTAGCCACAG	0.532000														76			12		0	0	0.020292	0	0
DDX20	11218	broad.mit.edu	37	1	112309444	112309444	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:112309444C>T	uc001ebs.3	+	10	2755	c.2398C>T	c.(2398-2400)Cag>Tag	p.Q800*	DDX20_uc010owf.2_Nonsense_Mutation_p.Q562*|DDX20_uc001ebt.3_Nonsense_Mutation_p.Q408*	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	800					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGAATGCTCAGAGACATCC	0.393000														43			12		0	0	0.016723	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997096	82997096	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:82997096C>T	uc003uhy.2	-	16	2755	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	SEMA3E_uc022agy.1_Missense_Mutation_p.E652K	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	712					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGCAAGAATTCCTTGTACCAT	0.458000														82			19		0	0	0.007413	0	0
PDGFRA	5156	broad.mit.edu	37	4	55153703	55153703	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:55153703C>T	uc003han.4	+	18	3000	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F	PDGFRA_uc003haa.3_Missense_Mutation_p.S650F	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	890	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.S890F(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAGATCTTTTCCCTTGGTATG	0.483000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				54			20		0	0	0.008871	0	0
PENK	5179	broad.mit.edu	37	8	57354406	57354406	+	Missense_Mutation	SNP	G	A	A	rs148519224		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:57354406G>A	uc003xsz.2	-	1	310	c.229C>T	c.(229-231)Cct>Tct	p.P77S	PENK_uc003xta.3_Missense_Mutation_p.P77S	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	77					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.P77S(2)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCATCTTGAGGAAGCTCTGGT	0.483000														87			14		0	0	0.004990	0	0
ARL9	132946	broad.mit.edu	37	4	57384993	57384993	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:57384993C>T	uc003hby.1	+	2	614	c.166C>T	c.(166-168)Cct>Tct	p.P56S		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA.	120							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					CCCAGTACTTCCTCTGGTTGT	0.378000														26			8		0	0	0.003080	0	0
DNAH8	1769	broad.mit.edu	37	6	38891880	38891880	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:38891880G>A	uc021yzh.1	+	72	11013	c.10904G>A	c.(10903-10905)cGg>cAg	p.R3635Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R3418Q|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGAGAGCACGGAAAATTCCT	0.373000														60			14		0	0	0.016723	0	0
LOC390660	390660	broad.mit.edu	37	15	82620400	82620400	+	RNA	SNP	T	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr15:82620400T>C	uc021ssl.1	+	18		c.3880T>C			LOC390660_uc010bls.1_Non-coding_Transcript					Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA.																		GACCCAAGGGTCAGCCTGAGT	0.672000														23			3		0	0	0.009096	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117350	117350	+	RNA	SNP	C	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrGL000205.1:117350C>A	uc002kgk.4	+	0		c.728C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCACCTGGCCTTCTGTGAG	0.577000														38			8		5.18039e-06	5.37964e-06	0.003080	1	0
CACNA1F	778	broad.mit.edu	37	X	49065103	49065103	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:49065103C>T	uc004dnb.3	-	42	5090	c.5028G>A	c.(5026-5028)ggG>ggA	p.G1676G	CACNA1F_uc010nip.3_Silent_p.G1665G	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1676					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.G1676R(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ACACAGAAATCCCGGAGCCCC	0.582000														60			7		0	0	0.001984	0	0
DOCK4	9732	broad.mit.edu	37	7	111409609	111409609	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:111409609G>A	uc003vfy.3	-	37	4181	c.3912C>T	c.(3910-3912)atC>atT	p.I1304I	DOCK4_uc011kml.2_Silent_p.I140I|DOCK4_uc011kmm.2_Silent_p.I166I|DOCK4_uc003vfw.3_Silent_p.I709I|DOCK4_uc003vfx.3_Silent_p.I1259I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1259	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGTTCTGGATGATGGTGAGGT	0.552000														61			16		0	0	0.006122	0	0
MOG	4340	broad.mit.edu	37	6	29625034	29625034	+	Silent	SNP	C	T	T	rs111812606		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:29625034C>T	uc003nnf.3	+	0	277	c.48C>T	c.(46-48)ttC>ttT	p.F16F	MOG_uc003qzk.2_Silent_p.F16F|MOG_uc010kle.2_Non-coding_Transcript|MOG_uc010klf.2_Non-coding_Transcript|MOG_uc003nmy.2_Silent_p.F16F|MOG_uc003nna.3_Silent_p.F16F|MOG_uc011dlt.2_5'UTR|MOG_uc011dlv.2_Silent_p.F16F|MOG_uc011dlu.2_Silent_p.F16F|MOG_uc003nne.3_Silent_p.F16F|MOG_uc003nng.3_Silent_p.F16F|MOG_uc003nni.3_Silent_p.F16F|MOG_uc003nnh.3_Silent_p.F16F|MOG_uc003nnj.3_Silent_p.F16F|MOG_uc003nnk.3_Silent_p.F16F	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	16					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCTGCTCCTtcctcctcctcc	0.547000														22			4		0	0	0.009096	0	0
SCAMP3	10067	broad.mit.edu	37	1	155228653	155228653	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:155228653G>A	uc001fjs.3	-	4	715	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	SCAMP3_uc001fjt.3_Nonsense_Mutation_p.Q135*	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA.	161					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACAGTCTTCTGAAATTCTTGG	0.493000														152			24		0	0	0.018920	0	0
CCNB3	85417	broad.mit.edu	37	X	50053595	50053595	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:50053595G>A	uc004dox.4	+	5	2724	c.2426G>A	c.(2425-2427)aGc>aAc	p.S809N	CCNB3_uc004doy.3_Missense_Mutation_p.S809N|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	809					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)					GAGGAGCCCAGCATTGAGAAG	0.547000														23			5		0	0	0.014758	0	0
CYP4B1	1580	broad.mit.edu	37	1	47278227	47278227	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:47278227C>A	uc001cqn.4	+	3	511	c.427C>A	c.(427-429)Cct>Act	p.P143T	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.P143T|CYP4B1_uc009vym.3_Missense_Mutation_p.P128T|CYP4B1_uc010omk.2_5'UTR|CYP4B1_uc010oml.1_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	143					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GCTGCTCACACCTGGCTTTCA	0.587000														61			10		1.76689e-08	1.85386e-08	0.006214	1	0
ZFHX4	79776	broad.mit.edu	37	8	77764324	77764324	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:77764324C>T	uc003yau.2	+	9	5554	c.5167C>T	c.(5167-5169)Cct>Tct	p.P1723S	ZFHX4_uc003yaw.1_Missense_Mutation_p.P1678S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1678	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1723T(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTCATTTTCCTATGACCCC	0.473000										HNSCC(33;0.089)				52			4		0	0	0.009096	0	0
GRIA4	2893	broad.mit.edu	37	11	105769117	105769117	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:105769117T>A	uc001pix.2	+	6	1295	c.849T>A	c.(847-849)gaT>gaA	p.D283E	GRIA4_uc001piu.1_Missense_Mutation_p.D283E|GRIA4_uc001piw.2_Missense_Mutation_p.D283E|GRIA4_uc009yxk.1_Missense_Mutation_p.D283E	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	283					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGAAACTAGATCAGAGAGAGT	0.343000														19			6		0	0	0.001984	0	0
TBCE	6905	broad.mit.edu	37	1	235577778	235577778	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:235577778G>A	uc010pxr.1	+	3	339	c.216G>A	c.(214-216)ccG>ccA	p.P72P	TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Silent_p.P72P|TBCE_uc001hxa.1_Silent_p.P72P|TBCE_uc001hxb.1_5'UTR	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	72					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TTATTCGTCCGAACAAGGTAA	0.383000														62			7		0	0	0.004482	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20131078	20131078	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:20131078C>T	uc002zrr.2	+	9	2032	c.1925C>T	c.(1924-1926)tCg>tTg	p.S642L	ZDHHC8_uc002zrq.3_Missense_Mutation_p.S642L|ZDHHC8_uc010gsa.3_Missense_Mutation_p.S448L	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	642						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCGCGGACGTCGTCCTCCTCC	0.721000														5			4		0	0	0.009096	0	0
CTRC	11330	broad.mit.edu	37	1	15772132	15772132	+	Missense_Mutation	SNP	G	A	A	rs142027137		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:15772132G>A	uc001awi.1	+	6	703	c.680G>A	c.(679-681)gGt>gAt	p.G227D	CTRC_uc001awj.1_Silent_p.R178R	NM_007272	NP_009203	Q99895	CTRC_HUMAN	Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA.	227	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGAGAACGGTTCCTGGGAG	0.647000														65			24		0	0	0.018920	0	0
PDE4C	5143	broad.mit.edu	37	19	18333100	18333100	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:18333100C>T	uc010xqc.2	-	1	756	c.276G>A	c.(274-276)agG>agA	p.R92R	PDE4C_uc002nik.4_Silent_p.R92R|PDE4C_uc002nil.4_Silent_p.R92R|PDE4C_uc002nig.4_5'Flank|PDE4C_uc002nih.4_5'Flank|PDE4C_uc010ebk.3_5'UTR|PDE4C_uc002nii.4_Silent_p.R60R|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Silent_p.R92R	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	92					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CCAGGGCCCTCCTCCCACACG	0.632000														60			11		0	0	0.020292	0	0
KDM6A	7403	broad.mit.edu	37	X	44922683	44922683	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:44922683T>C	uc011mkz.2	+	16	2075	c.1700T>C	c.(1699-1701)gTt>gCt	p.V567A	KDM6A_uc022bvi.1_Missense_Mutation_p.V185A|KDM6A_uc010nhk.2_Missense_Mutation_p.V481A|KDM6A_uc004dge.4_Missense_Mutation_p.V515A|KDM6A_uc011mla.2_Missense_Mutation_p.V470A|KDM6A_uc011mlb.2_Missense_Mutation_p.V522A|KDM6A_uc011mlc.2_Missense_Mutation_p.V219A|KDM6A_uc022bvj.1_Missense_Mutation_p.V436A|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.V154A	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	515					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCAACAGGAGTTGCACAGGTA	0.458000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""									32			7		0	0	0.003080	0	0
ABCA13	154664	broad.mit.edu	37	7	48427419	48427419	+	Splice_Site	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:48427419G>A	uc003toq.2	+	36	11360	c.11336_splice	c.e36-1	p.G3779_splice	ABCA13_uc010kys.1_Splice_Site_p.G853_splice|ABCA13_uc003tos.1_Splice_Site_p.G605_splice|ABCA13_uc010kyt.1_Splice_Site	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3779					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						CATTTTTTAGGAACATTTGGT	0.299000														8			3		0	0	0.004672	0	0
TNXB	7148	broad.mit.edu	37	6	32037589	32037589	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:32037589G>A	uc003nzl.2	-	14	5530	c.5328C>T	c.(5326-5328)ccC>ccT	p.P1776P		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1858	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCCCAGACGGGGTTTTGGGG	0.587000														302			67		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179434480	179434480	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:179434480C>T	uc021vsy.1	-	274	68900	c.68675G>A	c.(68674-68676)gGa>gAa	p.G22892E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G16587E|TTN_uc021vta.1_Missense_Mutation_p.G16520E|TTN_uc021vtb.1_Missense_Mutation_p.G16395E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23819	Fibronectin type-III 66.						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)			TTTATTAATTCCTGTTGGTGG	0.373000														49			10		0	0	0.010729	0	0
POLD1	5424	broad.mit.edu	37	19	50902643	50902643	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:50902643C>T	uc010eny.3	+	1	219	c.218C>T	c.(217-219)tCa>tTa	p.S73L	POLD1_uc002psb.4_Missense_Mutation_p.S73L|POLD1_uc002psc.4_Missense_Mutation_p.S73L|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.	73					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			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)		GTCCCACCATCAGCCATAGAT	0.592000								DNA polymerases (catalytic subunits)						28			8		0	0	0.006214	0	0
ZBTB33	10009	broad.mit.edu	37	X	119389023	119389023	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:119389023C>T	uc022cdm.1	+	0	1753	c.1753C>T	c.(1753-1755)Cgt>Tgt	p.R585C	ZBTB33_uc010nqm.1_Missense_Mutation_p.R585C|ZBTB33_uc004esn.1_Missense_Mutation_p.R585C	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	585	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				Wnt receptor signaling pathway|intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						AAAGCTTTATCGTTTACATCC	0.378000														56			8		0	0	0.006214	0	0
ADRBK2	157	broad.mit.edu	37	22	26100117	26100117	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:26100117C>T	uc003abx.4	+	14	1416	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	ADRBK2_uc010gux.3_Silent_p.S423S|ADRBK2_uc003abw.2_Silent_p.S310S|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	423	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	AACTGAAGTCCCTTTTGGAGG	0.498000														36			9		0	0	0.010729	0	0
IMPG1	3617	broad.mit.edu	37	6	76728558	76728558	+	Silent	SNP	G	A	A	rs142510377	by1000genomes	TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:76728558G>A	uc003pik.1	-	6	814	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	228					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAACACAGCGAATTCTGTTT	0.413000														24			13		0	0	0.016723	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659649	63659649	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:63659649C>T	uc010lyq.1	+	3	564	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	144						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ACTTCCAGTACCTGGAGGTCA	0.478000														33			5		0	0	0.021553	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39156052	39156052	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:39156052G>A	uc002hvs.3	-	0	87	c.54C>T	c.(52-54)acC>acT	p.T18T		NM_031959	NP_114165	Q9BYR7	KRA32_HUMAN	Homo sapiens keratin associated protein 3-2 (KRTAP3-2), mRNA.	18	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity	p.T17T(1)		endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				AGGAGCAGATGGTGGTGGCAG	0.572000														49			18		0	0	0.006122	0	0
AKR1B10	57016	broad.mit.edu	37	7	134215553	134215553	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:134215553C>T	uc003vrr.3	+	1	545	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	75					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ACCTGTTCATCGTCAGCAAGG	0.512000														55			10		0	0	0.010729	0	0
SORBS2	8470	broad.mit.edu	37	4	186545539	186545539	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:186545539G>A	uc003iyg.3	-	12	1406	c.1374C>T	c.(1372-1374)gtC>gtT	p.V458V	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.V444V|SORBS2_uc003iyl.3_Silent_p.V344V|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.V248V|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	344						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGTCCCGAGGGACATCCAAGT	0.507000														52			16		0	0	0.024245	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				109			38		0	0	0.021022	0	0
HDHD2	84064	broad.mit.edu	37	18	44656625	44656625	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr18:44656625G>A	uc002lcs.3	-	3	518	c.385C>T	c.(385-387)Caa>Taa	p.Q129*	HDHD2_uc002lct.3_Nonsense_Mutation_p.Q39*	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.	129							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						CGGAATGCTTGATTCAGAATT	0.348000														54			12		0	0	0.010729	0	0
SPEG	10290	broad.mit.edu	37	2	220350076	220350076	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:220350076G>A	uc010fwg.3	+	30	7618	c.7618G>A	c.(7618-7620)Gaa>Aaa	p.E2540K		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2540					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCCCCAGGGGAAAGCCGAAG	0.607000														80			10		0	0	0.013537	0	0
SEC24C	9632	broad.mit.edu	37	10	75519806	75519806	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:75519806G>A	uc001juw.3	+	5	692	c.512G>A	c.(511-513)gGa>gAa	p.G171E	SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_Missense_Mutation_p.G29E|SEC24C_uc001jux.3_Missense_Mutation_p.G171E|SEC24C_uc010qko.2_Missense_Mutation_p.G29E|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	171					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCAGCCTCAGGAAGTTTCCCT	0.547000														79			28		0	0	0.008361	0	0
TLL1	7092	broad.mit.edu	37	4	166986935	166986935	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:166986935C>T	uc003irh.2	+	15	2755	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	TLL1_uc011cjn.2_Missense_Mutation_p.S726F|TLL1_uc011cjo.2_Missense_Mutation_p.S527F	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	703	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTGATCACATCCCAGTTCAAC	0.398000														67			6		0	0	0.021553	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	A	A	rs12366766		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000														37			4		0	0	0.009096	0	0
ANKRD17	26057	broad.mit.edu	37	4	73942768	73942768	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:73942768G>A	uc003hgp.3	-	32	7758	c.7641C>T	c.(7639-7641)atC>atT	p.I2547I	ANKRD17_uc003hgo.3_Silent_p.I2434I|ANKRD17_uc003hgq.3_Silent_p.I2296I|ANKRD17_uc003hgr.3_Silent_p.I2546I	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2547					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACCATCAGGGATAGGTGCTA	0.428000														34			17		0	0	0.028581	0	0
TTC16	158248	broad.mit.edu	37	9	130492962	130492962	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:130492962G>A	uc004brq.1	+	13	1967	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	TTC16_uc011mai.1_Missense_Mutation_p.E621K|TTC16_uc004brr.1_Silent_p.R454R|TTC16_uc010mxn.1_Missense_Mutation_p.E230K	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	634							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TATCTGCCAGGAATACAGGAG	0.587000														28			4		0	0	0.009096	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891916	30891916	+	Splice_Site	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:30891916C>T	uc003aid.2	-	3	274	c.174_splice	c.e3+1	p.R58_splice	SEC14L4_uc011akz.1_Splice_Site_p.R58_splice|SEC14L4_uc003aie.2_Splice_Site_p.G27_splice|SEC14L4_uc003aif.2_Splice_Site_p.R4_splice	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	58						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GATCCTTACCCTTCGGAGCAT	0.517000														20			4		0	0	0.021553	0	0
ATP13A3	79572	broad.mit.edu	37	3	194162180	194162180	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:194162180G>A	uc003fty.4	-	14	1972	c.1570C>T	c.(1570-1572)Cca>Tca	p.P524S	ATP13A3_uc003ftz.1_Missense_Mutation_p.P230S	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	524					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTTTCTTCTGGTGAAAGAAAT	0.333000														28			6		0	0	0.001984	0	0
OBSCN	84033	broad.mit.edu	37	1	228452073	228452073	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:228452073C>T	uc009xez.1	+	15	4886	c.4842C>T	c.(4840-4842)tcC>tcT	p.S1614S	OBSCN_uc001hsn.3_Silent_p.S1614S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1614	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCGGCTGTCCTTCCACCTGC	0.647000														20			6		0	0	0.021553	0	0
APH1A	51107	broad.mit.edu	37	1	150238977	150238977	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:150238977A>G	uc001ety.2	-	5	1088	c.689T>C	c.(688-690)aTc>aCc	p.I230T	APH1A_uc001etz.2_Missense_Mutation_p.I230T|APH1A_uc010pbx.2_Missense_Mutation_p.I160T|APH1A_uc010pby.2_Missense_Mutation_p.I173T|APH1A_uc010pbz.2_Missense_Mutation_p.I114T	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	Homo sapiens anterior pharynx defective 1 homolog A (C. elegans) (APH1A), transcript variant 1, mRNA.	230					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to plasma membrane	protein binding	p.I230M(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCAGCTGTGATGAAGGCCCA	0.562000														31			5		0	0	0.014758	0	0
SMG5	23381	broad.mit.edu	37	1	156236056	156236056	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:156236056G>A	uc001foc.4	-	11	1520	c.1371C>T	c.(1369-1371)tcC>tcT	p.S457S		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	457					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGCGGAGACAGGAGAGGCGAG	0.587000														98			28		0	0	0.006320	0	0
TAS1R1	80835	broad.mit.edu	37	1	6635361	6635361	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:6635361A>G	uc001ant.3	+	2	1265	c.1169A>G	c.(1168-1170)tAc>tGc	p.Y390C	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Missense_Mutation_p.Y312C	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	390					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TACAACGCATACCGGGCTGTG	0.587000														42			12		0	0	0.013537	0	0
FREM2	341640	broad.mit.edu	37	13	39343824	39343824	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:39343824G>A	uc001uwv.3	+	3	5829	c.5520G>A	c.(5518-5520)cgG>cgA	p.R1840R	FREM2_uc001uww.3_5'UTR	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1840	Calx-beta 1.		R -> W (in dbSNP:rs9603422).		cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGCGAGTGCGGATCCTGAGTG	0.542000														40			12		0	0	0.013537	0	0
LAMB4	22798	broad.mit.edu	37	7	107708494	107708494	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:107708494C>T	uc010ljo.1	-	18	2497	c.2413G>A	c.(2413-2415)Gga>Aga	p.G805R	LAMB4_uc003vey.2_Missense_Mutation_p.G805R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	805	Laminin EGF-like 6.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCATAGCTTCCAGTTGAGCAC	0.552000														184			45		0	0	0.014410	0	0
HSPH1	10808	broad.mit.edu	37	13	31715323	31715323	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:31715323G>A	uc001utl.3	-	12	2067	c.1796C>T	c.(1795-1797)cCt>cTt	p.P599L	HSPH1_uc001utj.3_Missense_Mutation_p.P597L|HSPH1_uc001utk.3_Missense_Mutation_p.P553L|HSPH1_uc010aaw.3_Missense_Mutation_p.P556L|HSPH1_uc010tds.2_Missense_Mutation_p.P521L	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	597					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTTCAATAGGCAGCTCAAC	0.353000														46			12		0	0	0.013537	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54922055	54922055	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:54922055G>A	uc001sgc.4	+	21	2479	c.2400G>A	c.(2398-2400)caG>caA	p.Q800Q	NCKAP1L_uc010sox.2_Silent_p.Q342Q|NCKAP1L_uc010soy.2_Silent_p.Q750Q	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	800					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCTTAGACAGGCAAGCAGTG	0.532000														107			50		0	0	0.014410	0	0
KCNH4	23415	broad.mit.edu	37	17	40327750	40327750	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:40327750G>A	uc002hzb.2	-	5	1167	c.834C>T	c.(832-834)atC>atT	p.I278I		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	278					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)		AGTTCAGGATGATATCTGGGG	0.562000														100			9		0	0	0.004482	0	0
NLRP8	126205	broad.mit.edu	37	19	56473543	56473543	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:56473543C>T	uc002qmh.3	+	3	2224	c.2153C>T	c.(2152-2154)cCt>cTt	p.P718L	NLRP8_uc010etg.3_Missense_Mutation_p.P718L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	718						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGGGGCCTCCTTTTTTGAAG	0.488000														58			14		0	0	0.020292	0	0
HDAC4	9759	broad.mit.edu	37	2	239976470	239976470	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:239976470G>A	uc002vyk.4	-	24	3840	c.3048C>T	c.(3046-3048)tcC>tcT	p.S1016S	HDAC4_uc010fyy.3_Silent_p.S973S	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	1016	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CTTTCTCCATGGAACGGACAG	0.512000														70			13		0	0	0.004990	0	0
WFDC9	259240	broad.mit.edu	37	20	44238797	44238797	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:44238797G>A	uc002xoy.3	-	2	242	c.24C>T	c.(22-24)ctC>ctT	p.L8L		NM_147198	NP_671731	Q8NEX5	WFDC9_HUMAN	Homo sapiens WAP four-disulfide core domain 9 (WFDC9), mRNA.	8						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TGAACATGACGAGTAGAAGAA	0.493000														35			5		0	0	0.014758	0	0
WDR69	164781	broad.mit.edu	37	2	228750084	228750084	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:228750084G>A	uc002vpn.1	+	1	137	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	WDR69_uc010zlw.1_Missense_Mutation_p.E5K|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	20										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GTTGGAATATGAAAAACATGG	0.338000														54			8		0	0	0.008291	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515911	140515911	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:140515911G>A	uc003liq.3	+	0	1112	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	299	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAACAGCAGAAATTCGCCT	0.448000														74			20		0	0	0.010504	0	0
RYR3	6263	broad.mit.edu	37	15	33961554	33961554	+	Splice_Site	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr15:33961554G>A	uc001zhi.3	+	37	5690	c.5620_splice	c.e37-1	p.I1874_splice	RYR3_uc010bar.3_Splice_Site_p.I1874_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1874	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCTCTCAAAGATCAACATGC	0.448000														33			9		0	0	0.004482	0	0
VASH2	79805	broad.mit.edu	37	1	213146268	213146268	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:213146268G>A	uc001hjy.3	+	4	1048	c.844G>A	c.(844-846)Gag>Aag	p.E282K	VASH2_uc001hjv.2_Non-coding_Transcript|VASH2_uc001hjx.3_Missense_Mutation_p.E217K|VASH2_uc010ptn.2_Missense_Mutation_p.E178K|VASH2_uc001hjw.3_Missense_Mutation_p.E238K	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	Homo sapiens vasohibin 2 (VASH2), transcript variant 3, mRNA.	282					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		CATAAGGAAGGAGCTGGAGAA	0.527000														37			10		0	0	0.008291	0	0
MEF2D	4209	broad.mit.edu	37	1	156437893	156437893	+	Silent	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:156437893G>A	uc001fpc.3	-	10	1836	c.1446C>T	c.(1444-1446)gaC>gaT	p.D482D	MEF2D_uc001fpb.3_Silent_p.D475D|MEF2D_uc001fpd.3_Silent_p.D475D|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Silent_p.D482D	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	482					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGTCATCCCGGTCTCCCGTCT	0.701000														38			15		0	0	0.028581	0	0
SV2C	22987	broad.mit.edu	37	5	75490905	75490905	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:75490905C>T	uc003kei.1	+	2	876	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	248					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCTCTTCTGTCGCTTACTTTC	0.388000														184			20		0	0	0.016522	0	0
MSLNL	401827	broad.mit.edu	37	16	830384	830384	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:830384G>A	uc002cjz.1	-	2	617	c.617C>T	c.(616-618)cCt>cTt	p.P206L		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTGCATGCAGGCACGCACAT	0.597000														51			10		0	0	0.006214	0	0
PPYR1	5540	broad.mit.edu	37	10	47087209	47087209	+	Silent	SNP	C	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:47087209C>T	uc001jee.3	+	2	845	c.426C>T	c.(424-426)ctC>ctT	p.L142L	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.L142L|PPYR1_uc021ppu.1_Silent_p.L142L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	142					blood circulation|digestion|feeding behavior	integral to plasma membrane		p.L142L(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGCATCAGCTCATCATCAACC	0.592000														128			17		0	0	0.007413	0	0
MUC20	200958	broad.mit.edu	37	3	195452664	195452664	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:195452664delC	uc010hzo.3	+	2	803	c.677delC	c.(676-678)accfs	p.T226fs	MUC20_uc010hzp.3_Frame_Shift_Del_p.T191fs|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	397	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCAGTCATCACCCCCTCATGG	0.587													---	1	---	---	5	---					
MLL5	55904	broad.mit.edu	37	7	104753026	104753027	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:104753026_104753027insT	uc003vcm.3	+	26	5357_5358	c.4823_4824insT	c.(4822-4824)catfs	p.H1608fs	MLL5_uc010ljc.3_Frame_Shift_Ins_p.H1608fs|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Frame_Shift_Ins_p.H342fs	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1608	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						ACTCCAGGGCATTTTTTGCCCT	0.535													---	100	---	---	26	---					
DIP2C	22982	broad.mit.edu	37	10	415480	415482	+	In_Frame_Del	DEL	CTT	-	-			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:415480_415482delCTT	uc001ifp.3	-	17	2173_2175	c.2083_2085delAAG	c.(2083-2085)aagdel	p.K695del	DIP2C_uc009xhi.1_In_Frame_Del_p.K81del|DIP2C_uc010pzz.1_In_Frame_Del_p.K16del	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	695						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCACGGACAGCTTCTCTTCCGAG	0.562													---	53	---	---	12	---					
DHRS2	10202	broad.mit.edu	37	14	24112393	24112400	+	Frame_Shift_Del	DEL	GCTGCTGA	-	-			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:24112393_24112400delGCTGCTGA	uc001wkt.4	+	4	900_907	c.453_460delGCTGCTGA	c.(451-462)ctgctgctgagcfs	p.L151fs	DHRS2_uc010aku.1_3'UTR|DHRS2_uc001wku.4_Frame_Shift_Del_p.L151fs|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	129				I -> V (in Ref. 3; BAD96577).	C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCCCAGCCCTGCTGCTGAGCCAGTTGCT	0.577													---	143	---	---	22	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			---	8	---	---	9	---					
