Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HMGCLL1	54511	broad.mit.edu	37	6	55406914	55406914	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:55406914G>A	ENST00000398661.2	-	3	354	c.223C>T	c.(223-225)Cct>Tct	p.P75S	HMGCLL1_ENST00000508459.1_Missense_Mutation_p.P45S|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P45S|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.P45S|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.P45S|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.P45S	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	75							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.P75S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAAACTCAGGGAGTCCAGAT	0.323000													9	25					0	0	0.006214	0	0
NEK1	4750	broad.mit.edu	37	4	170384541	170384541	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr4:170384541T>A	ENST00000439128.2	-	25	2996	c.2356A>T	c.(2356-2358)Aca>Tca	p.T786S	NEK1_ENST00000512193.1_Missense_Mutation_p.T717S|NEK1_ENST00000510533.1_Missense_Mutation_p.T742S|NEK1_ENST00000507142.1_Missense_Mutation_p.T814S|NEK1_ENST00000511633.1_Missense_Mutation_p.T770S	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	786					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T814S(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTCCCACTGTATGTCCTATA	0.353000													28	30					0	0	0.009535	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128890490	128890490	+	Silent	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:128890490C>G	ENST00000371106.3	+	14	1518	c.1326C>G	c.(1324-1326)tcC>tcG	p.S442S		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	442					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	p.S442S(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GCAAGCTGTCCTCAGATGAGA	0.602000													6	37					0	0	0.021553	0	0
CHFR	55743	broad.mit.edu	37	12	133420622	133420622	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:133420622C>G	ENST00000266880.7	-	17	1930	c.1867G>C	c.(1867-1869)Gag>Cag	p.E623Q	CHFR_ENST00000432561.2_Missense_Mutation_p.E624Q|CHFR_ENST00000443047.2_Missense_Mutation_p.E532Q|CHFR_ENST00000541341.1_Missense_Mutation_p.E51Q|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000537522.1_Missense_Mutation_p.E246Q|CHFR_ENST00000450056.2_Missense_Mutation_p.E612Q|CHFR_ENST00000315585.7_Missense_Mutation_p.E583Q			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	624					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E624Q(1)|p.E583Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCTGGCAACTCGGAAGCAGGA	0.517000													6	18					0	0	0.029380	0	0
MOGAT2	80168	broad.mit.edu	37	11	75438535	75438535	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:75438535C>A	ENST00000526712.1	+	2	853	c.80C>A	c.(79-81)cCc>cAc	p.P27H	MOGAT2_ENST00000198801.5_Missense_Mutation_p.P109H			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	109					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.P109N(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGCTTCCACCCCCATGGAGTC	0.622000													43	21					2.37825e-27	4.56923e-27	0.010771	1	0
TRBV10-2	28584	broad.mit.edu	37	7	142206723	142206723	+	RNA	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:142206723C>A	ENST00000426318.2	-	0	182																											GGCTCCAAGTCTGGTGACACA	0.483000													47	47					2.13384e-23	4.00505e-23	0.014410	1	0
GPR112	139378	broad.mit.edu	37	X	135431279	135431279	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:135431279C>T	ENST00000394143.1	+	6	5705	c.5414C>T	c.(5413-5415)aCt>aTt	p.T1805I	GPR112_ENST00000394141.1_Missense_Mutation_p.T1600I|GPR112_ENST00000287534.4_Missense_Mutation_p.T1742I|GPR112_ENST00000370652.1_Missense_Mutation_p.T1805I|GPR112_ENST00000412101.1_Missense_Mutation_p.T1600I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1805					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T1805I(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTAGAAAAGACTTCCTTAACA	0.383000													35	88					0	0	0.013726	0	0
LCP2	3937	broad.mit.edu	37	5	169680125	169680125	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:169680125C>G	ENST00000046794.5	-	18	1858	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	LCP2_ENST00000521416.1_Missense_Mutation_p.E210Q	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	415					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	p.E415Q(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCTCTTACCTCTTCCTCCGCG	0.463000													3	11					0	0	0.004672	0	0
CFC1	55997	broad.mit.edu	37	2	131356256	131356256	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:131356256C>A	ENST00000259216.4	-	3	468	c.206G>T	c.(205-207)gGg>gTg	p.G69V		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	69					determination of left/right symmetry|gastrulation	anchored to membrane|extracellular region|plasma membrane		p.G69V(1)		endometrium(1)|lung(4)	5	Colorectal(110;0.1)					CTCCTCCGGCCCCCAGCCCTC	0.627000													18	75					7.53681e-25	1.4367e-24	0.030593	1	0
GRIK5	2901	broad.mit.edu	37	19	42563598	42563598	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:42563598C>T	ENST00000262895.3	-	5	589	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	GRIK5_ENST00000301218.4_Missense_Mutation_p.R197Q|GRIK5_ENST00000593562.1_Missense_Mutation_p.R197Q	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	197						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R197Q(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TGTGGGGTCCCGGCTGTCGTC	0.607000													26	57					0	0	0.037714	0	0
GRID1	2894	broad.mit.edu	37	10	87407155	87407155	+	Splice_Site	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:87407155C>A	ENST00000327946.7	-	13	2083		c.e13-1		RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Splice_Site	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1							cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGGAAAGTCCTGAAATGCAG	0.527000										Multiple Myeloma(13;0.14)			20	103					8.00594e-06	1.00434e-05	0.007413	1	0
DAB2	1601	broad.mit.edu	37	5	39390615	39390615	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:39390615G>A	ENST00000320816.6	-	5	860	c.393C>T	c.(391-393)aaC>aaT	p.N131N	DAB2_ENST00000509337.1_Silent_p.N131N|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000339788.6_Silent_p.N131N|DAB2_ENST00000545653.1_Silent_p.N131N	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	131	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.N131N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CAAATGCCCGGTTGTCTGTCA	0.408000													23	60					0	0	0.018920	0	0
ITPK1	3705	broad.mit.edu	37	14	93408241	93408241	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr14:93408241C>A	ENST00000267615.6	-	11	1083	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C	ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000556603.2_Missense_Mutation_p.G304C|ITPK1_ENST00000555495.1_Missense_Mutation_p.G185C			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	304	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	p.G304C(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TCGCTCACGCCCTCGTAGCCT	0.652000													8	8					0.00621372	0.00667906	0.006214	1	0
GRIP2	80852	broad.mit.edu	37	3	14552931	14552931	+	RNA	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr3:14552931C>A	ENST00000273083.3	-	0	1841							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding	p.V594L(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CTGTGTGCCACGCTGCCTTTC	0.602000													11	27					0.000151284	0.000176619	0.016723	1	0
ZNF19	7567	broad.mit.edu	37	16	71509360	71509360	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:71509360T>C	ENST00000288177.5	-	6	1345	c.1090A>G	c.(1090-1092)Aaa>Gaa	p.K364E	ZNF19_ENST00000565100.2_Missense_Mutation_p.K294E|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565637.1_Missense_Mutation_p.K322E|ZNF19_ENST00000564230.1_Missense_Mutation_p.K364E|AC010547.9_ENST00000561908.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	364						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K364E(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		CTGAAGGCTTTTCCACAATCT	0.403000													11	64					0	0	0.008291	0	0
FAM208B	54906	broad.mit.edu	37	10	5781857	5781857	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:5781857C>A	ENST00000328090.5	+	13	2349	c.1724C>A	c.(1723-1725)tCt>tAt	p.S575Y	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	575								p.S575Y(1)									AAAGAAAATTCTTTGCGAGGT	0.378000													16	118					5.03518e-11	7.65473e-11	0.007413	1	0
MS4A14	84689	broad.mit.edu	37	11	60184263	60184263	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:60184263G>C	ENST00000300187.6	+	5	2099	c.1822G>C	c.(1822-1824)Gac>Cac	p.D608H	MS4A14_ENST00000531783.1_Missense_Mutation_p.D641H|MS4A14_ENST00000395005.2_Missense_Mutation_p.D591H|MS4A14_ENST00000531787.1_Missense_Mutation_p.D496H	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	608	Gln-rich.					integral to membrane	receptor activity	p.D608H(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCAAACTGAAGACCAGCCGGC	0.453000													4	20					0	0	0.009096	0	0
EVX2	344191	broad.mit.edu	37	2	176948097	176948097	+	Silent	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:176948097A>T	ENST00000308618.4	-	1	544	c.408T>A	c.(406-408)ctT>ctA	p.L136L		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	136						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L136L(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TGTTTTCCTTAAGCTGAGCGG	0.687000													8	7					0	0	0.003080	0	0
MOV10L1	54456	broad.mit.edu	37	22	50572451	50572451	+	Silent	SNP	G	G	T	rs148444495		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr22:50572451G>T	ENST00000262794.5	+	14	2009	c.1926G>T	c.(1924-1926)cgG>cgT	p.R642R	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Silent_p.R622R|MOV10L1_ENST00000395858.3_Silent_p.R642R|MOV10L1_ENST00000545383.1_Silent_p.R642R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	642					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.R622R(1)|p.R642R(1)		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)		CAAGCAGACGGTGTCACTTTG	0.343000													9	57					7.48243e-07	9.89546e-07	0.006214	1	0
TTN	7273	broad.mit.edu	37	2	179458826	179458826	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:179458826G>T	ENST00000589042.1	-	297	58518	c.58294C>A	c.(58294-58296)Cgc>Agc	p.R19432S	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10492S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10367S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R17791S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16864S|TTN_ENST00000342175.6_Missense_Mutation_p.R10559S|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17791	Fibronectin type-III 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R10492S(1)|p.R16862S(1)|p.R10559S(1)|p.R16864S(1)|p.R10367S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATGAGTGCGATCATCTTCC	0.463000													25	74					8.24728e-16	1.38782e-15	0.024334	1	0
COL10A1	1300	broad.mit.edu	37	6	116441292	116441292	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:116441292A>G	ENST00000327673.4	-	2	2394	c.1987T>C	c.(1987-1989)Tac>Cac	p.Y663H	COL10A1_ENST00000243222.4_Missense_Mutation_p.Y663H|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	663	C1q.|Nonhelical region (NC1).				skeletal system development	collagen	metal ion binding	p.Y663H(1)		central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCAGAGGAGTATAGGCCATTT	0.478000													14	68					0	0	0.016723	0	0
HPSE2	60495	broad.mit.edu	37	10	100995342	100995342	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:100995342G>C	ENST00000370552.3	-	1	277	c.218C>G	c.(217-219)aCa>aGa	p.T73R	HPSE2_ENST00000370546.1_Missense_Mutation_p.T73R|HPSE2_ENST00000370549.1_Missense_Mutation_p.T73R|HPSE2_ENST00000404542.1_Missense_Mutation_p.T73R	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	73					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	p.T73R(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CTCATTGACTGTCCTGACTGG	0.502000													16	112					0	0	0.024245	0	0
ZNF676	163223	broad.mit.edu	37	19	22362965	22362965	+	Silent	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:22362965C>T	ENST00000397121.2	-	3	1871	c.1554G>A	c.(1552-1554)tcG>tcA	p.S518S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S518S(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CAGTAAGGATCGAGGACCAGC	0.403000													17	51					0	0	0.033300	0	0
RYR3	6263	broad.mit.edu	37	15	33603291	33603291	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:33603291G>T	ENST00000389232.4	+	1	115	c.45G>T	c.(43-45)ctG>ctT	p.L15L	RYR3_ENST00000415757.3_Silent_p.L15L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	15					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L15L(1)		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)		TCCAGTTTCTGAGGACTGTGA	0.756000													8	13					0.00448238	0.00490449	0.004482	1	0
DMD	1756	broad.mit.edu	37	X	32407765	32407765	+	Silent	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:32407765C>T	ENST00000357033.4	-	32	4577	c.4371G>A	c.(4369-4371)aaG>aaA	p.K1457K	DMD_ENST00000378677.2_Silent_p.K1453K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1457	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.K1457K(1)|p.K1452K(1)|p.K1453K(1)|p.K116K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATAATCGAAACTTCATGGAGA	0.343000													12	94					0	0	0.024245	0	0
CCDC178	374864	broad.mit.edu	37	18	30803130	30803130	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr18:30803130T>A	ENST00000383096.3	-	18	2054	c.1872A>T	c.(1870-1872)aaA>aaT	p.K624N	CCDC178_ENST00000403303.1_Missense_Mutation_p.K624N|CCDC178_ENST00000300227.8_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.K624N|CCDC178_ENST00000402325.1_Missense_Mutation_p.K624N|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.K624N|CCDC178_ENST00000406524.2_Missense_Mutation_p.K624N					coiled-coil domain containing 178									p.K624N(1)									TTTTCTTTACTTTTCCCACCT	0.299000													8	44					0	0	0.008291	0	0
PAPPA	5069	broad.mit.edu	37	9	119065156	119065156	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr9:119065156C>A	ENST00000328252.3	+	10	3443	c.3074C>A	c.(3073-3075)tCc>tAc	p.S1025Y	PAPPA_ENST00000534838.1_Missense_Mutation_p.S63Y|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1025					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.S1025Y(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAGTGGGCATCCAATGCTTCA	0.502000													12	39					6.40141e-05	7.61924e-05	0.010729	1	0
ZNF521	25925	broad.mit.edu	37	18	22806795	22806795	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr18:22806795G>C	ENST00000361524.3	-	4	1235	c.1087C>G	c.(1087-1089)Ctc>Gtc	p.L363V	ZNF521_ENST00000538137.2_Missense_Mutation_p.L363V|ZNF521_ENST00000584787.1_Missense_Mutation_p.L143V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	363					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.L363F(1)|p.L363V(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCCACTGAGAGGTTGGAATCT	0.582000			T	PAX5	ALL								9	51					0	0	0.004482	0	0
WARS	7453	broad.mit.edu	37	14	100803403	100803403	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr14:100803403C>A	ENST00000355338.2	-	10	1868	c.1250G>T	c.(1249-1251)aGg>aTg	p.R417M	WARS_ENST00000344102.5_Missense_Mutation_p.R376M|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Missense_Mutation_p.R376M|WARS_ENST00000392882.2_Missense_Mutation_p.R417M|WARS_ENST00000358655.4_Missense_Mutation_p.R376M|WARS_ENST00000557135.1_Missense_Mutation_p.R417M	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	417					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	p.R417M(1)|p.?(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GCTCACCTTCCTGATCTGCTC	0.602000													13	96					3.41278e-10	5.10871e-10	0.033300	1	0
ISM2	145501	broad.mit.edu	37	14	77942014	77942014	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr14:77942014T>A	ENST00000393684.3	-	8	1767	c.1376A>T	c.(1375-1377)aAc>aTc	p.N459I	ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000342219.4_Missense_Mutation_p.N547I|ISM2_ENST00000429906.1_Missense_Mutation_p.N466I|ISM2_ENST00000412904.1_Missense_Mutation_p.N466I			Q6H9L7	ISM2_HUMAN	isthmin 2	547	AMOP.					extracellular region		p.N547I(1)		endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCGGCCGTTGTTGGGAGGGAG	0.607000													11	24					0	0	0.008291	0	0
COLEC12	81035	broad.mit.edu	37	18	348117	348117	+	Silent	SNP	G	G	C	rs143313397		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr18:348117G>C	ENST00000400256.3	-	4	435	c.228C>G	c.(226-228)cgC>cgG	p.R76R		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	76					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	p.R76R(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CATAGGTTTGGCGAGATGTTT	0.363000													23	66					0	0	0.027356	0	0
BTN3A3	10384	broad.mit.edu	37	6	26448954	26448954	+	Splice_Site	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:26448954A>T	ENST00000244519.2	+	8	1180		c.e8-1		BTN3A3_ENST00000361232.3_Splice_Site|BTN3A3_ENST00000339789.4_Splice_Site	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3							integral to membrane		p.?(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATTCCATTGCAGAGTGGAGGA	0.443000													32	101					0	0	0.019004	0	0
GDF2	2658	broad.mit.edu	37	10	48416440	48416440	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:48416440G>A	ENST00000249598.1	-	1	413	c.254C>T	c.(253-255)cCg>cTg	p.P85L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	85					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.P85L(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTACTGCGGCGGCTCCACCCT	0.542000													6	42					0	0	0.003080	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420299	69420299	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr9:69420299A>C	ENST00000357336.3	+	13	1470	c.1189A>C	c.(1189-1191)Ata>Cta	p.I397L		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	397								p.I397L(1)		breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AAGTGAAAAAATACAACTTTC	0.289000													4	59					0	0	0.029380	0	0
SNIP1	79753	broad.mit.edu	37	1	38006344	38006344	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:38006344G>A	ENST00000296215.6	-	3	412	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	114	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	p.H114Y(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				CTCCGGGGATGATCCTCACGC	0.502000													7	51					0	0	0.003080	0	0
FRMPD3	84443	broad.mit.edu	37	X	106841315	106841315	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:106841315C>G	ENST00000276185.4	+	15	2305	c.2305C>G	c.(2305-2307)Cta>Gta	p.L769V				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	769						cytoskeleton		p.L818V(1)|p.L769V(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TCTGCAGGCTCTAGAAGCCCT	0.562000													4	40					0	0	0.009096	0	0
MYH2	4620	broad.mit.edu	37	17	10447283	10447283	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:10447283T>C	ENST00000245503.5	-	7	968	c.584A>G	c.(583-585)tAc>tGc	p.Y195C	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Y195C|MYH2_ENST00000532183.1_Missense_Mutation_p.Y195C	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	195	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Y195C(1)		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						TGTTGCAAAGTACTGGATGAC	0.433000													13	75					0	0	0.013537	0	0
TRPC4	7223	broad.mit.edu	37	13	38320279	38320279	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr13:38320279C>A	ENST00000379705.3	-	3	1549	c.692G>T	c.(691-693)aGc>aTc	p.S231I	TRPC4_ENST00000355779.2_Missense_Mutation_p.S231I|TRPC4_ENST00000426868.2_Missense_Mutation_p.S231I|TRPC4_ENST00000358477.2_Missense_Mutation_p.S231I|TRPC4_ENST00000447043.1_Missense_Mutation_p.S231I|TRPC4_ENST00000379681.3_Missense_Mutation_p.S231I|TRPC4_ENST00000379673.2_Missense_Mutation_p.S231I|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	231					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.S231I(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCCACCTTGCTCAGTTCCTG	0.463000													11	49					3.86212e-05	4.65362e-05	0.008291	1	0
OSBPL8	114882	broad.mit.edu	37	12	76788492	76788492	+	Silent	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:76788492C>T	ENST00000261183.3	-	9	1169	c.690G>A	c.(688-690)gcG>gcA	p.A230A	OSBPL8_ENST00000393250.4_Silent_p.A188A|OSBPL8_ENST00000393249.2_Silent_p.A188A	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	230	PH.				lipid transport		lipid binding	p.A230A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGGATCCAACCGCTTCACCTT	0.333000													11	26					0	0	0.008291	0	0
KCNU1	157855	broad.mit.edu	37	8	36694348	36694348	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:36694348C>A	ENST00000399881.3	+	14	1440	c.1403C>A	c.(1402-1404)aCc>aAc	p.T468N		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	468	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.T468N(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AACTGGGACACCGGAGACAAC	0.443000													27	43					3.73988e-18	6.58867e-18	0.030593	1	0
TRIM43	129868	broad.mit.edu	37	2	96260875	96260875	+	Silent	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:96260875A>G	ENST00000272395.2	+	3	625	c.489A>G	c.(487-489)agA>agG	p.R163R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	163						intracellular	zinc ion binding	p.R163R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						AGGAGGGAAGAACAGCCTTCC	0.393000													6	29					0	0	0.003080	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589974	140589974	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:140589974C>T	ENST00000239450.2	+	1	1684	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P162S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		499	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P499S(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGCACCTGCCCCTCGCCTC	0.677000													14	34					0	0	0.033300	0	0
SF3B3	23450	broad.mit.edu	37	16	70605714	70605714	+	Nonstop_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:70605714T>C	ENST00000302516.5	+	26	3863	c.3652T>C	c.(3652-3654)Tga>Cga	p.*1218R		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	0					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.*1218L(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTACGCCTTCTGAGCCCTCCT	0.567000													9	36					0	0	0.004482	0	0
FBN2	2201	broad.mit.edu	37	5	127641204	127641204	+	Splice_Site	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:127641204T>C	ENST00000508053.1	-	50	6647	c.5674_splice	c.e50+1	p.V1891_splice	FBN2_ENST00000262464.4_Splice_Site_p.V1891_splice			P35556	FBN2_HUMAN	fibrillin 2	1891	EGF-like 30; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.V1891V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTTCTTACCTACACAGGCCC	0.428000													16	27					0	0	0.028581	0	0
P2RY10	27334	broad.mit.edu	37	X	78216521	78216521	+	Silent	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:78216521C>A	ENST00000171757.2	+	4	784	c.504C>A	c.(502-504)ccC>ccA	p.P168P	P2RY10_ENST00000544091.1_Silent_p.P168P|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	168						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.P168P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TGCCATTTCCCATCCTGAGAA	0.502000													24	29					1.9806e-07	2.69229e-07	0.014323	1	0
KCNJ3	3760	broad.mit.edu	37	2	155711698	155711698	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:155711698C>A	ENST00000295101.2	+	3	1856	c.1379C>A	c.(1378-1380)tCt>tAt	p.S460Y		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	460					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.S460Y(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAGATGTTATCTGATCCCATG	0.468000													21	50					4.96729e-08	6.84756e-08	0.008871	1	0
GPR141	353345	broad.mit.edu	37	7	37780793	37780793	+	Missense_Mutation	SNP	C	C	A	rs146749644	byFrequency	TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:37780793C>A	ENST00000447769.1	+	4	1087	c.798C>A	c.(796-798)aaC>aaA	p.N266K	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.N266K|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	266						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N266K(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATTTTATAACGAAATCTTCT	0.383000													12	221					5.50884e-06	6.94654e-06	0.013537	1	0
LGR6	59352	broad.mit.edu	37	1	202245537	202245537	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:202245537C>A	ENST00000367278.3	+	5	621	c.532C>A	c.(532-534)Cct>Act	p.P178T	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.P126T	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	178						integral to membrane|plasma membrane	protein-hormone receptor activity	p.P178T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CACGGAGATCCCTGTCAGGGC	0.627000													15	26					1.3612e-06	1.79048e-06	0.024245	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125204514	125204514	+	Splice_Site	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:125204514G>T	ENST00000431078.1	+	6	1282	c.918_splice	c.e6+1	p.E306_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	306	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.E306D(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGACTATGAGGTGAGTTGAT	0.547000													18	29					5.3912e-06	6.83353e-06	0.006122	1	0
CNBD1	168975	broad.mit.edu	37	8	88249219	88249219	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:88249219T>G	ENST00000518476.1	+	6	701	c.650T>G	c.(649-651)cTg>cGg	p.L217R	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	217								p.L217R(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TATAAAAATCTGATTGAAGGA	0.358000													62	67					0	0	0.014410	0	0
BRCA2	675	broad.mit.edu	37	13	32937423	32937423	+	Nonsense_Mutation	SNP	C	C	A	rs80359048		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr13:32937423C>A	ENST00000544455.1	+	18	8311	c.8084C>A	c.(8083-8085)tCa>tAa	p.S2695*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.S2695*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2695					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.S2695*(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACATAATTTCATTGAGCGCA	0.368000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			15	87					1.02788e-11	1.5924e-11	0.033300	1	0
NUGGC	389643	broad.mit.edu	37	8	27886883	27886883	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:27886883C>A	ENST00000413272.2	-	17	2196	c.2054G>T	c.(2053-2055)cGg>cTg	p.R685L	NUGGC_ENST00000341513.6_Missense_Mutation_p.R685L	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.R685L(2)									ATCTTTCATCCGCTCACACGC	0.522000													3	16					6.4e-05	7.61924e-05	0.004672	1	0
ROBO4	54538	broad.mit.edu	37	11	124756396	124756396	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:124756396C>T	ENST00000306534.3	-	16	3243	c.2758G>A	c.(2758-2760)Ggt>Agt	p.G920S	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.G775S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	920					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.G920S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGCTCTAGACCGAAACCAAAG	0.567000													31	18					0	0	0.037714	0	0
LCK	3932	broad.mit.edu	37	1	32741606	32741606	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:32741606C>G	ENST00000333070.4	+	7	673	c.573C>G	c.(571-573)ttC>ttG	p.F191L	LCK_ENST00000336890.5_Missense_Mutation_p.F191L|LCK_ENST00000373564.3_Missense_Mutation_p.F249L	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	191	Interaction with PTPRH.|SH2.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	p.F191L(1)|p.F249L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	ACGGTGGCTTCTACATCTCCC	0.552000			T	TRB@	T-ALL								29	24					0	0	0.009535	0	0
MTHFSD	64779	broad.mit.edu	37	16	86582141	86582141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:86582141C>A	ENST00000322911.6	-	4	327	c.277G>T	c.(277-279)Gga>Tga	p.G93*	MTHFSD_ENST00000360900.6_Nonsense_Mutation_p.G94*|MTHFSD_ENST00000381214.5_Nonsense_Mutation_p.G94*|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000543303.2_Nonsense_Mutation_p.G93*	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	94					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	p.G94*(1)|p.G93*(1)		endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TTAAACAATCCCGTTCTCAGT	0.388000													26	92					1.50538e-07	2.05203e-07	0.030593	1	0
API5	8539	broad.mit.edu	37	11	43364037	43364037	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:43364037C>T	ENST00000455725.2	+	15	1764	c.1519C>T	c.(1519-1521)Cgt>Tgt	p.R507C	API5_ENST00000531273.1_Missense_Mutation_p.R518C|API5_ENST00000534695.1_Intron|API5_ENST00000378852.3_3'UTR|API5_ENST00000420461.2_3'UTR|RP11-484D2.2_ENST00000526220.1_RNA			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	0					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.R518C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						ACGAGGAAATCGTAGTCGGGG	0.463000													7	38					0	0	0.003080	0	0
FAT3	120114	broad.mit.edu	37	11	92495099	92495099	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:92495099C>A	ENST00000298047.6	+	4	3764	c.3747C>A	c.(3745-3747)gaC>gaA	p.D1249E	FAT3_ENST00000409404.2_Missense_Mutation_p.D1249E|FAT3_ENST00000525166.1_Missense_Mutation_p.D1099E|RP11-203F8.1_ENST00000529884.1_RNA			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1249	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D1249E(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGAAAATGACAACAAGCCCC	0.463000										TCGA Ovarian(4;0.039)			15	186					6.31663e-08	8.68314e-08	0.024245	1	0
DENND2C	163259	broad.mit.edu	37	1	115168229	115168229	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:115168229C>A	ENST00000393274.1	-	4	1002	c.377G>T	c.(376-378)aGc>aTc	p.S126I	DENND2C_ENST00000393276.3_Missense_Mutation_p.S126I|DENND2C_ENST00000393277.1_Missense_Mutation_p.S126I	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	126								p.S126I(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTTTACAGCTTTCAATTTC	0.363000													11	85					6.40141e-05	7.61924e-05	0.010729	1	0
ADCY6	112	broad.mit.edu	37	12	49170960	49170960	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:49170960C>A	ENST00000307885.4	-	5	1997	c.1303G>T	c.(1303-1305)Ggg>Tgg	p.G435W	ADCY6_ENST00000357869.3_Missense_Mutation_p.G435W|ADCY6_ENST00000550422.1_Missense_Mutation_p.G435W	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	435					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.G435L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCGGCAGCCCTGACACACAG	0.557000													28	85					4.87955e-14	7.96395e-14	0.027356	1	0
EMC1	23065	broad.mit.edu	37	1	19566877	19566877	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:19566877C>T	ENST00000477853.1	-	7	742	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	EMC1_ENST00000375199.3_Missense_Mutation_p.V234I|EMC1_ENST00000375208.3_Missense_Mutation_p.V212I|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1									p.V234I(1)									CACACCAGGACAGCCTCATCC	0.552000													15	22					0	0	0.028581	0	0
TNR	7143	broad.mit.edu	37	1	175365799	175365799	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:175365799G>A	ENST00000367674.1	-	5	1829	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L	TNR_ENST00000263525.2_Missense_Mutation_p.P374L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	374	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.P374L(1)		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)					CCAATCTCCAGGCACCCGCTG	0.592000													18	45					0	0	0.033300	0	0
TDRD1	56165	broad.mit.edu	37	10	115971637	115971637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:115971637G>A	ENST00000251864.2	+	14	1826	c.1673G>A	c.(1672-1674)tGg>tAg	p.W558*	TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.W558*|TDRD1_ENST00000369280.1_Nonsense_Mutation_p.W558*	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	558	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.W558*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GATGATCAGTGGTACCGTGCC	0.378000													16	114					0	0	0.010504	0	0
A2M	2	broad.mit.edu	37	12	9243991	9243991	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:9243991G>T	ENST00000318602.7	-	19	2582	c.2275C>A	c.(2275-2277)Cct>Act	p.P759T		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	759					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.P759T(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ATGGTGTCAGGGACTGTTACT	0.517000													4	76					1.23904e-05	1.5269e-05	0.014758	1	0
ZSCAN1	284312	broad.mit.edu	37	19	58565342	58565342	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:58565342G>T	ENST00000282326.1	+	6	1397	c.1150G>T	c.(1150-1152)Gtc>Ttc	p.V384F		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	384					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V384F(1)|p.V384I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCAGTGTAGCGTCTGCGGGAA	0.692000													4	7					0.00909568	0.00971267	0.009096	1	0
CKAP2	26586	broad.mit.edu	37	13	53036058	53036058	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr13:53036058G>C	ENST00000378037.5	+	4	1190	c.1100G>C	c.(1099-1101)aGa>aCa	p.R367T	CKAP2_ENST00000490903.1_Missense_Mutation_p.R318T|CKAP2_ENST00000378034.3_Missense_Mutation_p.R366T|CKAP2_ENST00000258607.5_Missense_Mutation_p.R366T	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	367					apoptosis|cell cycle	centrosome|microtubule|spindle pole		p.R366T(1)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TCGGAAGAGAGAAAGTAAGTA	0.348000													9	31					0	0	0.004482	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564173	176564173	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:176564173T>A	ENST00000367662.3	+	3	2597	c.1433T>A	c.(1432-1434)cTt>cAt	p.L478H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L478H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	478	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L478H(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TACCCACGACTTGAGGTTCTC	0.537000													30	57					0	0	0.009535	0	0
PCLO	27445	broad.mit.edu	37	7	82791757	82791757	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:82791757T>C	ENST00000423517.2	-	1	489	c.152A>G	c.(151-153)gAg>gGg	p.E51G	PCLO_ENST00000333891.8_Missense_Mutation_p.E51G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	51					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E51G(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTCCTCTCCTCTTCGCTCAG	0.701000													2	3					0	0	0.004672	0	0
OR10R2	343406	broad.mit.edu	37	1	158450371	158450371	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:158450371G>T	ENST00000368152.1	+	1	704	c.704G>T	c.(703-705)tGt>tTt	p.C235F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C235F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTGTTTATCTGTGTTTCTTAT	0.443000													50	65					6.08268e-21	1.11174e-20	0.014410	1	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14184153	14184153	+	RNA	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr18:14184153G>A	ENST00000581935.1	+	0	842																				lung(3)	3						CATTGACATAGGTAAGGGTCA	0.289000													10	39					0	0	0.010729	0	0
CSMD3	114788	broad.mit.edu	37	8	113246614	113246614	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:113246614T>A	ENST00000297405.5	-	68	10964	c.10720A>T	c.(10720-10722)Aat>Tat	p.N3574Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.N3534Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3405Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3504Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3574						integral to membrane|plasma membrane		p.N3574Y(1)|p.N3534Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTGCCCAATTTTCTTCCTTC	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	148					0	0	0.033300	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48608688	48608688	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:48608688T>A	ENST00000354276.3	-	3	349	c.22A>T	c.(22-24)Ata>Tta	p.I8L	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.I8L|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.I8L|PLA2G4C_ENST00000599111.1_Intron	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	8	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.I8L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCAGGAATTATGGAAACTTCA	0.458000													17	88					0	0	0.007413	0	0
ZNF423	23090	broad.mit.edu	37	16	49670744	49670744	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:49670744G>T	ENST00000561648.1	-	4	2372	c.2319C>A	c.(2317-2319)caC>caA	p.H773Q	ZNF423_ENST00000262383.2_Missense_Mutation_p.H773Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.H656Q|ZNF423_ENST00000562871.1_Missense_Mutation_p.H713Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.H713Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.H713Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.H656Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	773					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.H773Q(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTTGCCCAGGTGGCTGTGTT	0.587000													8	30					0.00307968	0.00339251	0.003080	1	0
SPTB	6710	broad.mit.edu	37	14	65271709	65271709	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr14:65271709C>A	ENST00000389722.3	-	2	301	c.248G>T	c.(247-249)cGg>cTg	p.R83L	SPTB_ENST00000389721.5_Missense_Mutation_p.R83L|SPTB_ENST00000556626.1_Missense_Mutation_p.R83L|SPTB_ENST00000542895.1_Missense_Mutation_p.R83L|SPTB_ENST00000389720.3_Missense_Mutation_p.R83L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	83	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.R83L(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCGCCCATCCCGCAGGTCCTT	0.587000													17	53					0.000422831	0.000482107	0.028581	1	0
ELTD1	64123	broad.mit.edu	37	1	79383572	79383572	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:79383572G>T	ENST00000370742.3	-	11	1688	c.1625C>A	c.(1624-1626)gCc>gAc	p.A542D		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	542					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.A542D(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AACTACCACGGCTGGGCTTAG	0.373000													21	129					7.87624e-14	1.27695e-13	0.016522	1	0
OR1N1	138883	broad.mit.edu	37	9	125288841	125288841	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr9:125288841G>A	ENST00000304880.2	-	1	731	c.732C>T	c.(730-732)tgC>tgT	p.C244C		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C244C(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CACAAACAACGCAGAGGTGGG	0.552000													5	21					0	0	0.021553	0	0
OR13H1	347468	broad.mit.edu	37	X	130678918	130678918	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:130678918C>A	ENST00000338616.3	+	1	969	c.871C>A	c.(871-873)Ctg>Atg	p.L291M		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L291M(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GATATATAGCCTGAGAAAAAA	0.398000													45	100					4.18559e-23	7.82593e-23	0.014410	1	0
PPARA	5465	broad.mit.edu	37	22	46615710	46615710	+	Splice_Site	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr22:46615710G>A	ENST00000396000.2	+	6	775	c.508_splice	c.e6-1	p.A170_splice	PPARA_ENST00000262735.5_Splice_Site_p.A170_splice|PPARA_ENST00000407236.1_Splice_Site_p.A170_splice|PPARA_ENST00000402126.1_Splice_Site_p.A170_splice|PPARA_ENST00000434345.2_Intron			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	170					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	p.A170A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	AAACCCTAGCGATTCGTTTTG	0.493000													8	53					0	0	0.006214	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734323	28734323	+	RNA	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr14:28734323A>G	ENST00000550043.1	+	0	728																											GCGTCTGACAACCTCCACCAG	0.448000													3	28					0	0	0.004672	0	0
NACA2	342538	broad.mit.edu	37	17	59668525	59668525	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:59668525G>T	ENST00000521764.1	-	1	38	c.17C>A	c.(16-18)aCa>aAa	p.T6K		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	6					protein transport	cytoplasm|nucleus		p.T6K(1)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GACGGTTTCTGTGGCTTCGCC	0.582000													11	26					2.27111e-07	3.07009e-07	0.013537	1	0
DENND1B	163486	broad.mit.edu	37	1	197621405	197621405	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:197621405T>A	ENST00000235453.4	-	8	654	c.377A>T	c.(376-378)cAc>cTc	p.H126L	DENND1B_ENST00000400967.2_Missense_Mutation_p.H126L|DENND1B_ENST00000367396.3_Missense_Mutation_p.H136L			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	136	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.H126L(1)|p.H136L(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TGGTACTGGGTGGTTATACAG	0.323000													11	47					0	0	0.010729	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683135	50683135	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:50683135C>A	ENST00000008391.3	+	2	574	c.346C>A	c.(346-348)Ctg>Atg	p.L116M		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	116							DNA binding|sequence-specific DNA binding transcription factor activity	p.L116M(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTTTATTAACCTGCACAATGC	0.637000													12	38					2.32078e-09	3.31153e-09	0.024245	1	0
VWA3B	200403	broad.mit.edu	37	2	98887214	98887214	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:98887214G>T	ENST00000477737.1	+	22	3117	c.2913G>T	c.(2911-2913)ttG>ttT	p.L971F	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	971								p.L971F(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAGAACGGTTGAATTGGCCCA	0.413000													65	138					1.07363e-35	2.08738e-35	0.014410	1	0
EGLN3	112399	broad.mit.edu	37	14	34396240	34396240	+	Splice_Site	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr14:34396240C>A	ENST00000250457.3	-	4	943		c.e4-1		EGLN3_ENST00000553215.1_Splice_Site	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3						apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	p.?(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CATAGCATATCTGTGAAAGAT	0.313000													6	49					0.00307968	0.00339251	0.003080	1	0
MAGT1	84061	broad.mit.edu	37	X	77112246	77112246	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:77112246C>A	ENST00000358075.6	-	5	838	c.752G>T	c.(751-753)tGg>tTg	p.W251L		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	219					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.W219L(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCAAAAGCCCATCCAGTTTT	0.328000													24	85					6.32553e-13	1.00223e-12	0.024334	1	0
CDKL5	6792	broad.mit.edu	37	X	18622582	18622582	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:18622582C>T	ENST00000379989.3	+	13	1823	c.1538C>T	c.(1537-1539)aCc>aTc	p.T513I	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.T513I	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	513					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.T513I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAGCCCAGTACCAGTAGGTAC	0.552000													22	114					0	0	0.016522	0	0
LRP2	4036	broad.mit.edu	37	2	170145561	170145561	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:170145561G>T	ENST00000263816.3	-	9	1302	c.1017C>A	c.(1015-1017)aaC>aaA	p.N339K	LRP2_ENST00000443831.1_Missense_Mutation_p.N339K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	339	EGF-like 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.N339K(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGTCATTGTGGTTGATGATAT	0.512000													19	60					6.33239e-15	1.05109e-14	0.010504	1	0
PCDH7	5099	broad.mit.edu	37	4	30724495	30724495	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr4:30724495A>C	ENST00000361762.2	+	1	2459	c.1451A>C	c.(1450-1452)aAg>aCg	p.K484T	PCDH7_ENST00000543491.1_Missense_Mutation_p.K484T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	484	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.K484T(1)|p.K437T(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AACAAGAAAAAGTACTTCTTG	0.632000													3	9					0	0	0.009096	0	0
GDF2	2658	broad.mit.edu	37	10	48414122	48414122	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:48414122C>G	ENST00000249598.1	-	2	905	c.746G>C	c.(745-747)aGa>aCa	p.R249T		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	249					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.R249T(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGGCAGGTTTCTGGAACCTGG	0.557000													5	27					0	0	0.014758	0	0
TRIO	7204	broad.mit.edu	37	5	14507306	14507306	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:14507306G>T	ENST00000344204.4	+	56	8712	c.8688G>T	c.(8686-8688)ctG>ctT	p.L2896L	TRIO_ENST00000344135.5_Silent_p.L395L|TRIO_ENST00000537187.1_Silent_p.L2720L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2896	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L2896L(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGGCGCACCTGGGGGAGGTTC	0.632000													10	23					2.80697e-09	3.98199e-09	0.010729	1	0
NKD1	85407	broad.mit.edu	37	16	50642220	50642220	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:50642220G>T	ENST00000268459.3	+	4	432	c.208G>T	c.(208-210)Gtg>Ttg	p.V70L	NKD1_ENST00000564336.1_3'UTR|RP11-401P9.6_ENST00000379963.1_RNA	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	70					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	p.V70L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CGTGGGCGACGTGTTGAGAGA	0.592000													21	89					1.90627e-21	3.49721e-21	0.012319	1	0
OR56A1	120796	broad.mit.edu	37	11	6048493	6048493	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:6048493C>T	ENST00000316650.5	-	1	478	c.442G>A	c.(442-444)Gtg>Atg	p.V148M		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V148M(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTTGGCCACAAATTGATTA	0.507000													6	42					0	0	0.029380	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698402	111698402	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:111698402A>T	ENST00000340433.2	+	1	676	c.446A>T	c.(445-447)aAt>aTt	p.N149I		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	149							nucleic acid binding|zinc ion binding	p.N149I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTCTGATGAATGCTAAGTTT	0.423000													16	103					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9024488	9024488	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:9024488G>T	ENST00000397910.4	-	17	37248	c.37045C>A	c.(37045-37047)Cat>Aat	p.H12349N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12351					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H12349N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCTCTGATGGGTGAAACCT	0.537000													11	17					4.36969e-10	6.48149e-10	0.016723	1	0
TMEM209	84928	broad.mit.edu	37	7	129842495	129842495	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:129842495G>A	ENST00000397622.2	-	4	330	c.208C>T	c.(208-210)Ctt>Ttt	p.L70F	TMEM209_ENST00000473456.1_Missense_Mutation_p.L70F|TMEM209_ENST00000336804.8_Missense_Mutation_p.L69F|TMEM209_ENST00000462753.1_Missense_Mutation_p.L69F|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	70						integral to membrane		p.L69F(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AGAGATGCAAGGGCAAGCTCT	0.388000													17	24					0	0	0.028581	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050277	84050277	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:84050277C>A	ENST00000299709.3	-	8	1008	c.1009G>T	c.(1009-1011)Gcc>Tcc	p.A337S		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	337					amino acid transport|sodium ion transport	integral to membrane		p.A337S(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCGGCCAGGGCGCTGGGCCCC	0.657000													13	40					0.000151284	0.000176619	0.016723	1	0
SSX6	280657	broad.mit.edu	37	X	47976475	47976475	+	Missense_Mutation	SNP	A	A	C	rs17327911		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:47976475A>C	ENST00000319275.3	+	6	484	c.118A>C	c.(118-120)Aag>Cag	p.K40Q	SSX6_ENST00000376932.2_Missense_Mutation_p.K138Q														p.K138Q(1)		large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						CGATGGGAAAAAGCTGTGCCC	0.507000													21	154					0	0	0.014323	0	0
TRIB3	57761	broad.mit.edu	37	20	368840	368840	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr20:368840G>A	ENST00000217233.3	+	2	739	c.186G>A	c.(184-186)gtG>gtA	p.V62V	TRIB3_ENST00000422053.2_Silent_p.V89V	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	62					apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.V62V(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CAACTGCTGTGGCCACTGCCT	0.667000													21	67					0	0	0.012319	0	0
NELL1	4745	broad.mit.edu	37	11	21555957	21555957	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:21555957C>G	ENST00000298925.5	+	17	1920	c.1767C>G	c.(1765-1767)caC>caG	p.H589Q	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.H504Q|NELL1_ENST00000357134.5_Missense_Mutation_p.H561Q|NELL1_ENST00000532434.1_Intron			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	561	EGF-like 5; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.H561Q(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTGAGTGCCACAACCATTCCC	0.483000													25	43					0	0	0.027356	0	0
MDGA2	161357	broad.mit.edu	37	14	47346708	47346708	+	Silent	SNP	A	A	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr14:47346708A>C	ENST00000426342.1	-	12	2273	c.1527T>G	c.(1525-1527)ccT>ccG	p.P509P	MDGA2_ENST00000439988.2_Silent_p.P738P|MDGA2_ENST00000357362.3_Silent_p.P509P|MDGA2_ENST00000399222.3_Intron|MDGA2_ENST00000399232.2_Silent_p.P807P	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	738	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.P509P(2)|p.P807P(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GAGGATTTACAGGAGCTACAA	0.239000													3	3					0	0	0.004672	0	0
ZNF91	7644	broad.mit.edu	37	19	23545221	23545221	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:23545221C>G	ENST00000300619.7	-	4	765	c.560G>C	c.(559-561)tGt>tCt	p.C187S	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.C155S	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	187						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C187S(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGACTTGACACATTTTTTACA	0.289000													12	43					0	0	0.013537	0	0
GPR115	221393	broad.mit.edu	37	6	47682320	47682320	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:47682320G>T	ENST00000283303.2	+	6	1597	c.1339G>T	c.(1339-1341)Gca>Tca	p.A447S	GPR115_ENST00000371220.1_Missense_Mutation_p.A504S|GPR115_ENST00000327753.3_Missense_Mutation_p.A447S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	447					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A447S(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CGTGAATATAGCAGTGTCCCT	0.468000													24	115					1.10923e-09	1.61584e-09	0.016522	1	0
PVRL1	5818	broad.mit.edu	37	11	119508809	119508809	+	Nonstop_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:119508809T>C	ENST00000341398.2	-	8	1375	c.1376A>G	c.(1375-1377)tAg>tGg	p.*459W	RP11-196E1.3_ENST00000532153.1_RNA|RP11-196E1.3_ENST00000601999.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.*459W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGTCCTGGGCTAGGGGCACTC	0.642000													7	14					0	0	0.029380	0	0
GRIA3	2892	broad.mit.edu	37	X	122616858	122616858	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:122616858G>A	ENST00000264357.5	+	15	2940	c.2648G>A	c.(2647-2649)gGc>gAc	p.G883D	GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371251.1_Missense_Mutation_p.G883D|GRIA3_ENST00000371256.5_Missense_Mutation_p.G883D	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	883					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.G883D(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TACAGAGAAGGCTACAACGTG	0.413000													15	104					0	0	0.028581	0	0
TRIM8	81603	broad.mit.edu	37	10	104404673	104404673	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:104404673C>T	ENST00000302424.6	+	1	421	c.299C>T	c.(298-300)cCg>cTg	p.P100L		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	100						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	p.P100L(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGCGGCCCCCCGCTGCCCGCG	0.701000													4	5					0	0	0.009096	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560666	44560666	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:44560666C>A	ENST00000289547.4	-	13	3060	c.3005G>T	c.(3004-3006)aGg>aTg	p.R1002M	NPC1L1_ENST00000381160.3_Missense_Mutation_p.R1002M|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R956M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1002					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.R1002M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CACCGAGGGCCTCACAGAGCC	0.567000													35	215					5.71845e-15	9.52425e-15	0.023175	1	0
HCFC2	29915	broad.mit.edu	37	12	104492250	104492250	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:104492250A>T	ENST00000229330.4	+	13	1974	c.1870A>T	c.(1870-1872)Atc>Ttc	p.I624F	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	624	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.I624F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GAAGCAAAGCATCTCAAAGGT	0.343000													37	67					0	0	0.027894	0	0
OPCML	4978	broad.mit.edu	37	11	132290114	132290114	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:132290114G>T	ENST00000331898.7	-	7	1589	c.1011C>A	c.(1009-1011)ctC>ctA	p.L337L	OPCML_ENST00000524381.1_Silent_p.L330L|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Silent_p.L296L|OPCML_ENST00000541867.1_Silent_p.L346L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	337					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.L330L(1)|p.L337L(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGTGGGCTAAGAGGGTCCCTG	0.512000													28	24					6.00712e-18	1.05071e-17	0.012213	1	0
MYH2	4620	broad.mit.edu	37	17	10446451	10446451	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:10446451T>A	ENST00000245503.5	-	9	1153	c.769A>T	c.(769-771)Act>Tct	p.T257S	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.T257S|MYH2_ENST00000532183.1_Missense_Mutation_p.T257S	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	257	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T257S(1)		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						TTTCCAGTAGTGCCAAAGTGG	0.279000													19	92					0	0	0.014323	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98195478	98195478	+	RNA	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:98195478C>T	ENST00000443455.1	-	0	764							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TCTTTTTCTCCAAGAGTAACA	0.333000													4	30					0	0	0.009096	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912628	77912628	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:77912628G>T	ENST00000321110.1	-	2	1585	c.1290C>A	c.(1288-1290)caC>caA	p.H430Q		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	430							nucleic acid binding|zinc ion binding	p.H430Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTTCACTGATGTGTGGGCAGT	0.517000													18	54					5.35267e-07	7.15644e-07	0.007413	1	0
WIPF1	7456	broad.mit.edu	37	2	175436881	175436881	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:175436881T>A	ENST00000392547.2	-	5	751	c.652A>T	c.(652-654)Act>Tct	p.T218S	WIPF1_ENST00000272746.5_Missense_Mutation_p.T218S|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.T218S|WIPF1_ENST00000359761.3_Missense_Mutation_p.T218S|WIPF1_ENST00000409891.1_Missense_Mutation_p.T218S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.T218S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	218					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.T218S(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGGGGAGGAGTGGGCCCGGGG	0.652000													21	42					0	0	0.010504	0	0
RP1	6101	broad.mit.edu	37	8	55537445	55537445	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:55537445A>T	ENST00000220676.1	+	4	1151	c.1003A>T	c.(1003-1005)Atg>Ttg	p.M335L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	335					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.M335L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACAGTTGAGATGAAAGTTCG	0.318000													12	29					0	0	0.010729	0	0
ZNF44	51710	broad.mit.edu	37	19	12384274	12384274	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:12384274T>A	ENST00000356109.5	-	5	1058	c.940A>T	c.(940-942)Agt>Tgt	p.S314C	ZNF44_ENST00000355684.5_Missense_Mutation_p.S266C	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	p.S266C(1)		ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AGATATGAACTGTAATCAGGG	0.413000													26	54					0	0	0.021523	0	0
CNBD1	168975	broad.mit.edu	37	8	88249220	88249220	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:88249220G>A	ENST00000518476.1	+	6	702	c.651G>A	c.(649-651)ctG>ctA	p.L217L	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	217								p.L217R(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATAAAAATCTGATTGAAGGAA	0.363000													60	67					0	0	0.014410	0	0
SF3B3	23450	broad.mit.edu	37	16	70605715	70605715	+	Nonstop_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:70605715G>T	ENST00000302516.5	+	26	3864	c.3653G>T	c.(3652-3654)tGa>tTa	p.*1218L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	0					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.*1218L(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TACGCCTTCTGAGCCCTCCTT	0.562000													9	36					0.00448238	0.00490449	0.004482	1	0
IGLV3-12	28802	broad.mit.edu	37	22	23114827	23114827	+	RNA	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr22:23114827A>T	ENST00000390313.2	+	0	108																											CAGTGGCCACAGCACAGATGG	0.498000													4	19					0	0	0.014758	0	0
IFT46	56912	broad.mit.edu	37	11	118425705	118425705	+	Splice_Site	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:118425705C>G	ENST00000264020.2	-	7	884	c.507_splice	c.e7+1	p.K169_splice	IFT46_ENST00000264021.3_Splice_Site_p.K118_splice|IFT46_ENST00000530872.1_Splice_Site_p.K169_splice	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	118					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	p.K169N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CTGACTATACCTTTAAGAATG	0.418000													25	74					0	0	0.018920	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596980	142596980	+	Silent	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:142596980T>A	ENST00000370503.2	-	2	173	c.90A>T	c.(88-90)gtA>gtT	p.V30V	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	30								p.V30V(1)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGTTTGGTACCTCTTGCA	0.393000													11	87					0	0	0.010729	0	0
CAP2	10486	broad.mit.edu	37	6	17539605	17539605	+	Nonsense_Mutation	SNP	G	G	T	rs147812744		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:17539605G>T	ENST00000229922.2	+	8	1274	c.742G>T	c.(742-744)Gag>Tag	p.E248*	CAP2_ENST00000378990.2_Nonsense_Mutation_p.E222*|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Nonsense_Mutation_p.E184*|CAP2_ENST00000489374.1_Nonsense_Mutation_p.E136*	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	248					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.E248*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCCACTTTTCGAGAATGAAGG	0.502000													27	77					1.2476e-16	2.14376e-16	0.030593	1	0
PRPS1L1	221823	broad.mit.edu	37	7	18067064	18067064	+	Silent	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:18067064A>G	ENST00000506618.2	-	1	422	c.342T>C	c.(340-342)aaT>aaC	p.N114N		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	114					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.N114N(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TAGAGAGCATATTTGCAACAA	0.473000													20	63					0	0	0.010504	0	0
RP1L1	94137	broad.mit.edu	37	8	10470795	10470795	+	Silent	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:10470795C>G	ENST00000382483.3	-	4	1036	c.813G>C	c.(811-813)acG>acC	p.T271T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	271					intracellular signal transduction			p.T271T(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCAGCCGTGGCGTGCTGCCTG	0.647000													25	49					0	0	0.024334	0	0
INPP5J	27124	broad.mit.edu	37	22	31522949	31522949	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr22:31522949G>A	ENST00000331075.5	+	5	1586	c.1537G>A	c.(1537-1539)Gcc>Acc	p.A513T	INPP5J_ENST00000405300.1_Missense_Mutation_p.A146T|INPP5J_ENST00000412277.2_Missense_Mutation_p.A446T|INPP5J_ENST00000400294.2_Missense_Mutation_p.A146T|INPP5J_ENST00000404390.3_Missense_Mutation_p.A145T			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	513	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	p.A146T(1)|p.A513T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCTGCTGTTCGCCAAGTACTA	0.662000													4	7					0	0	0.009096	0	0
C5orf58	133874	broad.mit.edu	37	5	169673105	169673105	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:169673105T>A	ENST00000521850.1	+	3	1986	c.297T>A	c.(295-297)agT>agA	p.S99R	C5orf58_ENST00000593851.1_Missense_Mutation_p.S99R|C5orf58_ENST00000517575.1_Intron			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	99								p.S99R(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6						TTTCTAACAGTTTTTCTATCT	0.299000													6	27					0	0	0.029380	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410286	105410286	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr14:105410286C>A	ENST00000333244.5	-	7	11621	c.11502G>T	c.(11500-11502)gaG>gaT	p.E3834D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3834						nucleus		p.E3834D(1)		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)			TCACATCGGCCTCCACCTTGG	0.592000													42	127					3.61848e-18	6.39789e-18	0.030466	1	0
TAF4	6874	broad.mit.edu	37	20	60584201	60584201	+	Silent	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr20:60584201T>C	ENST00000252996.3	-	5	1790	c.1791A>G	c.(1789-1791)aaA>aaG	p.K597K		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	597	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.K597K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATAGGAAATTTTTACATTTCT	0.353000													23	39					0	0	0.014323	0	0
CDH2	1000	broad.mit.edu	37	18	25543368	25543368	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr18:25543368G>T	ENST00000269141.3	-	15	2890	c.2467C>A	c.(2467-2469)Cga>Aga	p.R823R	AC015933.2_ENST00000423367.1_RNA|CDH2_ENST00000399380.3_Silent_p.R792R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	823					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.R823R(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTGCAGATCGGACCGGATAC	0.522000													8	20					2.17888e-05	2.67159e-05	0.006214	1	0
SPIN3	169981	broad.mit.edu	37	X	57021331	57021331	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:57021331C>T	ENST00000374919.3	-	2	372	c.50G>A	c.(49-51)gGc>gAc	p.G17D		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	17					gamete generation			p.G17D(2)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						GTGGCCAGCGCCCGTCCTGGA	0.587000													9	29					0	0	0.004482	0	0
OR1I1	126370	broad.mit.edu	37	19	15198003	15198003	+	Missense_Mutation	SNP	G	G	T	rs138224343		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:15198003G>T	ENST00000209540.2	+	1	213	c.127G>T	c.(127-129)Gcc>Tcc	p.A43S		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A43S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CATTGGAAATGCCCTCATTAT	0.493000													3	26					0.004672	0.00506652	0.004672	1	0
BTK	695	broad.mit.edu	37	X	100630266	100630266	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:100630266C>A	ENST00000308731.7	-	2	170	c.7G>T	c.(7-9)Gca>Tca	p.A3S	BTK_ENST00000372880.1_Missense_Mutation_p.A3S|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	3	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.A3S(3)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGAATCACTGCGGCCATAGCT	0.468000									Agammaglobulinemia, X-linked				15	125					3.41278e-10	5.10871e-10	0.033300	1	0
TSSC1	7260	broad.mit.edu	37	2	3200660	3200660	+	Silent	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:3200660C>A	ENST00000398659.4	-	7	866	c.726G>T	c.(724-726)cgG>cgT	p.R242R	TSSC1_ENST00000382125.4_Silent_p.R215R|TSSC1_ENST00000478754.1_5'UTR			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	215							protein binding	p.R215R(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		ACCTCATGCTCCGGGTGTCCC	0.627000													12	4					0.00136819	0.00153137	0.013537	1	0
CEP192	55125	broad.mit.edu	37	18	13049430	13049430	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr18:13049430G>T	ENST00000506447.1	+	16	2720	c.2640G>T	c.(2638-2640)aaG>aaT	p.K880N	CEP192_ENST00000325971.8_Missense_Mutation_p.K284N|CEP192_ENST00000430049.2_Missense_Mutation_p.K405N	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	475								p.K880N(1)|p.K284N(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGATGTGAAGACATGTTCCA	0.363000													18	79					7.07596e-05	8.40163e-05	0.006122	1	0
PITPNM1	9600	broad.mit.edu	37	11	67269493	67269493	+	Silent	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:67269493C>A	ENST00000356404.3	-	5	705	c.480G>T	c.(478-480)cgG>cgT	p.R160R	PITPNM1_ENST00000534749.1_Silent_p.R160R|PITPNM1_ENST00000436757.2_Silent_p.R160R	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	160					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	p.R160R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AGTGATAAAGCCGGGGGTCCT	0.622000													5	16					0.0215528	0.0226676	0.021553	1	0
TMTC4	84899	broad.mit.edu	37	13	101320951	101320951	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr13:101320951G>C	ENST00000342624.5	-	3	359	c.101C>G	c.(100-102)tCt>tGt	p.S34C	TMTC4_ENST00000328767.5_Missense_Mutation_p.S15C|TMTC4_ENST00000376234.3_Missense_Mutation_p.S15C	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	15						integral to membrane	binding	p.S34C(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGAAGAACAGAAGATGGAAG	0.473000													11	43					0	0	0.008291	0	0
ITGB1	3688	broad.mit.edu	37	10	33209284	33209284	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:33209284G>A	ENST00000396033.2	-	10	1293	c.1158C>T	c.(1156-1158)aaC>aaT	p.N386N	ITGB1_ENST00000302278.3_Silent_p.N386N|ITGB1_ENST00000374956.4_Silent_p.N386N|ITGB1_ENST00000423113.1_Silent_p.N386N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	386				EN -> DG (in Ref. 6; AAI13902).	axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	p.N386N(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACAATTTGCCGTTTTCCAAAA	0.363000													17	45					0	0	0.028581	0	0
PKD1L2	114780	broad.mit.edu	37	16	81232459	81232459	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:81232459A>T	ENST00000599697.1	-	7	1350	c.1351T>A	c.(1351-1353)Tca>Aca	p.S451T	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	451	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.S451T(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGCAGCCCTGACAGCAGCTCC	0.582000													40	92					0	0	0.023175	0	0
AGBL2	79841	broad.mit.edu	37	11	47726214	47726214	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:47726214A>T	ENST00000525123.1	-	7	752	c.467T>A	c.(466-468)gTa>gAa	p.V156E	AGBL2_ENST00000357610.3_Missense_Mutation_p.V156E|AGBL2_ENST00000298861.4_Missense_Mutation_p.V156E|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.V118E	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	156					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	p.V156E(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACGTGGGTTTACTTCATCCAA	0.448000													17	78					0	0	0.006122	0	0
RIOK1	83732	broad.mit.edu	37	6	7393347	7393347	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:7393347G>T	ENST00000379834.2	+	2	594	c.87G>T	c.(85-87)ttG>ttT	p.L29F		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	29							ATP binding|protein serine/threonine kinase activity	p.L22F(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ACAGAGACTTGAAGACAGTCA	0.333000													14	49					7.93312e-07	1.04631e-06	0.020292	1	0
SCN1A	6323	broad.mit.edu	37	2	166898802	166898802	+	Splice_Site	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:166898802C>A	ENST00000423058.2	-	12	2193	c.2176_splice	c.e12+1	p.E726_splice	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Splice_Site_p.E698_splice|SCN1A_ENST00000375405.3_Splice_Site_p.E715_splice|SCN1A_ENST00000303395.4_Splice_Site_p.E726_splice|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	726						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E726*(1)|p.E715*(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGTTACCAACCTTCTACTGTA	0.343000													32	81					2.08457e-15	3.49577e-15	0.010818	1	0
WDR44	54521	broad.mit.edu	37	X	117526694	117526694	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:117526694A>C	ENST00000254029.3	+	4	681	c.286A>C	c.(286-288)Agt>Cgt	p.S96R	WDR44_ENST00000371822.5_Missense_Mutation_p.S71R|WDR44_ENST00000371825.3_Missense_Mutation_p.S96R|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	96	Binding activity.			S -> G (in Ref. 2; CAL38210).		cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		p.S96R(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGCTACTGCCAGTCCTATTGT	0.413000													18	97					0	0	0.010504	0	0
SAMD7	344658	broad.mit.edu	37	3	169646344	169646344	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr3:169646344C>T	ENST00000428432.2	+	7	1408	c.1019C>T	c.(1018-1020)cCa>cTa	p.P340L	SAMD7_ENST00000335556.3_Missense_Mutation_p.P340L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	340	SAM.							p.P340L(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CGCAGCCTTCCAGGTTGTTCA	0.398000													45	85					0	0	0.014410	0	0
IGF2R	3482	broad.mit.edu	37	6	160499257	160499257	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:160499257A>T	ENST00000356956.1	+	37	5489	c.5341A>T	c.(5341-5343)Agc>Tgc	p.S1781C		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1781					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.S1781C(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTTAAGGACCAGCGAGTGCGA	0.532000													8	87					0	0	0.008291	0	0
COL14A1	7373	broad.mit.edu	37	8	121259871	121259871	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:121259871G>T	ENST00000297848.3	+	21	2769	c.2499G>T	c.(2497-2499)caG>caT	p.Q833H	COL14A1_ENST00000309791.4_Missense_Mutation_p.Q833H|COL14A1_ENST00000247781.3_Missense_Mutation_p.Q738H|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	833	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.Q833H(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CGGGGCCCCAGAACTTGCGGG	0.463000													8	64					5.4927e-09	7.72461e-09	0.004482	1	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567458	45567458	+	RNA	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:45567458C>A	ENST00000256692.5	-	0	1227					NR_037144.1													p.D231Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAAGTTTGTCTAATACTGGA	0.383000													54	90					1.83081e-24	3.46292e-24	0.014410	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701905	56701905	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:56701905C>A	ENST00000586855.2	-	5	1092	c.779G>T	c.(778-780)aGa>aTa	p.R260I	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R260I			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	260					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R260I(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACAGAGGCTCTTTTCTGGGG	0.493000													13	111					9.31168e-06	1.15921e-05	0.016723	1	0
RGS1	5996	broad.mit.edu	37	1	192547461	192547461	+	Silent	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:192547461C>A	ENST00000367459.3	+	4	456	c.390C>A	c.(388-390)ccC>ccA	p.P130P	RGS1_ENST00000469578.2_Silent_p.P130P	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	130	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.P130P(1)|p.P117P(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				ATCTTTTGCCCTGTAAAGCAG	0.368000													70	139					7.46257e-40	1.45669e-39	0.014410	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701551	56701551	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:56701551G>T	ENST00000586855.2	-	5	1446	c.1133C>A	c.(1132-1134)aCa>aAa	p.T378K	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.T378K			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	378					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T378K(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCTGTCTCCTGTGTGTGACCT	0.537000													11	32					6.40141e-05	7.61924e-05	0.010729	1	0
C21orf91	54149	broad.mit.edu	37	21	19165870	19165870	+	Silent	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr21:19165870C>T	ENST00000284881.4	-	5	846	c.756G>A	c.(754-756)gtG>gtA	p.V252V	AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400558.3_3'UTR|C21orf91_ENST00000400559.3_Silent_p.V251V	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	252								p.V252V(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		CTTTTTCTTGCACTTGGTGAG	0.393000													4	28					0	0	0.014758	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858712	38858712	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:38858712G>T	ENST00000409235.3	+	26	3070	c.2955G>T	c.(2953-2955)acG>acT	p.T985T	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.T945T	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	985					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.T625T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCTGGACCACGAGGACCACAA	0.612000													27	51					3.80469e-20	6.9022e-20	0.009535	1	0
FLG	2312	broad.mit.edu	37	1	152282768	152282768	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:152282768G>T	ENST00000368799.1	-	3	4629	c.4594C>A	c.(4594-4596)Cat>Aat	p.H1532N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1532	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H1532N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCCCATGGGAGGCATCA	0.557000									Ichthyosis				120	356					1.49341e-58	2.96253e-58	0.014410	1	0
PCDHA2	56146	broad.mit.edu	37	5	140175015	140175015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:140175015G>T	ENST00000526136.1	+	1	466	c.466G>T	c.(466-468)Gga>Tga	p.G156*	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Nonsense_Mutation_p.G156*|PCDHA2_ENST00000378132.1_Nonsense_Mutation_p.G156*|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1												p.G156*(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCTAGAGGGAGCATCTGA	0.438000													29	33					4.59853e-10	6.80025e-10	0.027356	1	0
OCA2	4948	broad.mit.edu	37	15	28196981	28196981	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:28196981T>A	ENST00000354638.3	-	18	2055	c.1900A>T	c.(1900-1902)Atc>Ttc	p.I634F	OCA2_ENST00000382996.2_Missense_Mutation_p.I634F|OCA2_ENST00000353809.5_Missense_Mutation_p.I610F	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	634					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.I634F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AACATGAAGATAACAAATCCC	0.428000									Oculocutaneous Albinism				8	30					0	0	0.006214	0	0
TLL2	7093	broad.mit.edu	37	10	98192670	98192670	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:98192670G>A	ENST00000357947.3	-	4	639	c.414C>T	c.(412-414)gcC>gcT	p.A138A	TLL2_ENST00000469598.1_Intron	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	138					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A138D(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCTTGGCTGCGGCATGCAAGG	0.552000													13	44					0	0	0.016723	0	0
SLC6A19	340024	broad.mit.edu	37	5	1201769	1201769	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:1201769G>T	ENST00000304460.10	+	1	60	c.4G>T	c.(4-6)Gtg>Ttg	p.V2L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	2					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.V2L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACCACCATGGTGAGGCTCGT	0.682000													3	13					2.56e-06	3.28758e-06	0.009096	1	0
TMX4	56255	broad.mit.edu	37	20	7963092	7963092	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr20:7963092C>A	ENST00000246024.2	-	8	1071	c.856G>T	c.(856-858)Gct>Tct	p.A286S		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	286	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane		p.A286S(1)		endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						ACACCAGCAGCCAAGTTGtcc	0.522000													10	43					0.000442599	0.000499973	0.006214	1	0
PTGIR	5739	broad.mit.edu	37	19	47127082	47127082	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:47127082C>A	ENST00000291294.2	-	2	534	c.401G>T	c.(400-402)cGc>cTc	p.R134L	PTGIR_ENST00000596260.1_Missense_Mutation_p.R134L|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	134					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	p.R134L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GCGGGCGCAGCGGGGCCCGTC	0.701000													7	5					0.00621372	0.00667906	0.006214	1	0
INSIG1	3638	broad.mit.edu	37	7	155095541	155095541	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:155095541C>T	ENST00000344756.4	+	5	566	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S	INSIG1_ENST00000340368.4_Intron|INSIG1_ENST00000342407.5_Intron	NM_198336.2	NP_938150.2	O15503	INSI1_HUMAN	insulin induced gene 1	271					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	p.P271S(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCTGATACCCTTCTGTGA	0.393000													5	58					0	0	0.021553	0	0
INPP4A	3631	broad.mit.edu	37	2	99185059	99185059	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:99185059G>T	ENST00000074304.5	+	23	2854	c.2461G>T	c.(2461-2463)Gtc>Ttc	p.V821F	INPP4A_ENST00000409540.3_Missense_Mutation_p.V782F|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000545415.1_Missense_Mutation_p.V782F|INPP4A_ENST00000409463.1_Missense_Mutation_p.V150F|INPP4A_ENST00000409016.3_Missense_Mutation_p.V782F|INPP4A_ENST00000409851.3_Missense_Mutation_p.V816F|INPP4A_ENST00000523221.1_Missense_Mutation_p.V821F	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	821					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.V821F(1)|p.V782F(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TTTACAAGAAGTCATCAACGT	0.418000													5	12					5.9392e-07	7.91893e-07	0.021553	1	0
ABI2	10152	broad.mit.edu	37	2	204259513	204259513	+	Silent	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:204259513C>G	ENST00000295851.4	+	6	965	c.669C>G	c.(667-669)ccC>ccG	p.P223P	ABI2_ENST00000261017.5_Silent_p.P217P|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000424558.1_Silent_p.P217P|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000422511.2_Silent_p.P223P|ABI2_ENST00000261016.6_Silent_p.P172P			Q9NYB9	ABI2_HUMAN	abl-interactor 2	223	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	p.P217P(1)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						ATATGGCTCCCTCGCAGCAGA	0.498000													41	112					0	0	0.033182	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124193	142124193	+	RNA	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:142124193C>T	ENST00000390376.2	-	0	284																											CCGACACCAGCCTGAGTGGGA	0.507000													42	224					0	0	0.030466	0	0
TTN	7273	broad.mit.edu	37	2	179466637	179466637	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:179466637C>T	ENST00000589042.1	-	285	55498	c.55274G>A	c.(55273-55275)gGa>gAa	p.G18425E	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9485E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9360E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16784E|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15857E|TTN_ENST00000342175.6_Missense_Mutation_p.G9552E|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16784	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G15857E(2)|p.G9360E(1)|p.G9552E(1)|p.G9485E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCATGAACTCCATCCTATTA	0.313000													9	52					0	0	0.006214	0	0
EPX	8288	broad.mit.edu	37	17	56277625	56277625	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:56277625C>A	ENST00000225371.5	+	10	1687	c.1577C>A	c.(1576-1578)cCt>cAt	p.P526H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	526					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.P526H(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						ATGGCCACCCCTGCCAAGCTG	0.612000											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	60					9.16793e-09	1.27827e-08	0.033300	1	0
CD7	924	broad.mit.edu	37	17	80274796	80274796	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:80274796G>A	ENST00000584284.1	-	2	225	c.144C>T	c.(142-144)tgC>tgT	p.C48C	CD7_ENST00000578509.1_5'UTR|CD7_ENST00000312648.3_Silent_p.C48C|CD7_ENST00000583376.1_5'UTR			P09564	CD7_HUMAN	CD7 molecule	48	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	p.C48C(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CGCTGGTGGAGCAGGTGATGT	0.642000													7	28					0	0	0.004482	0	0
ITPKC	80271	broad.mit.edu	37	19	41235228	41235228	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:41235228G>T	ENST00000263370.2	+	3	1410	c.1377G>T	c.(1375-1377)atG>atT	p.M459I		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	459						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.M459I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACTATGGCATGGTGCTGCAGG	0.572000													10	22					0.00621372	0.00667906	0.006214	1	0
HSPG2	3339	broad.mit.edu	37	1	22149978	22149978	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:22149978C>T	ENST00000374695.3	-	97	13086	c.13007G>A	c.(13006-13008)gGa>gAa	p.G4336E	HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000344642.2_3'UTR|LDLRAD2_ENST00000543870.1_Intron	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4336	Laminin G-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.G4336E(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTCAGGGGCTCCGCCTGCCGG	0.697000													2	2					0	0	0.009096	0	0
DRC1	92749	broad.mit.edu	37	2	26652528	26652528	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:26652528G>T	ENST00000288710.2	+	5	647	c.573G>T	c.(571-573)aaG>aaT	p.K191N		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.K191N(1)									AGTATGTGAAGGATTTGAAGA	0.438000													41	56					2.66277e-13	4.26042e-13	0.027894	1	0
SLC5A5	6528	broad.mit.edu	37	19	17988585	17988585	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:17988585G>T	ENST00000222248.3	+	6	1099	c.752G>T	c.(751-753)gGc>gTc	p.G251V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	251					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.G251V(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGGTGGGTGGCACGTTGGTG	0.592000													28	47					1.16021e-09	1.68506e-09	0.034045	1	0
FSIP2	401024	broad.mit.edu	37	2	186673585	186673585	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:186673585C>A	ENST00000343098.5	+	17	19819	c.19819C>A	c.(19819-19821)Cca>Aca	p.P6607T	FSIP2_ENST00000424728.1_Missense_Mutation_p.P6518T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.P1216T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAGGAATCTCCAATTAAAAT	0.303000													8	84					0.000442599	0.000499973	0.006214	1	0
BTK	695	broad.mit.edu	37	X	100615743	100615743	+	Splice_Site	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:100615743T>C	ENST00000308731.7	-	8	752	c.588_splice	c.e8-1	p.I197_splice	BTK_ENST00000372880.1_Splice_Site_p.I197_splice	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	197					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.I197V(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTTTTCAAGATCTATGTAGTT	0.473000									Agammaglobulinemia, X-linked				28	38					0	0	0.024334	0	0
CPA4	51200	broad.mit.edu	37	7	129950739	129950739	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:129950739G>A	ENST00000222482.4	+	9	934	c.906G>A	c.(904-906)aaG>aaA	p.K302K	CPA4_ENST00000493259.1_Silent_p.K198K|CPA4_ENST00000445470.2_Silent_p.K269K	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	302					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.K302K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GGAATTTCAAGGGCTTCATCG	0.512000													25	163					0	0	0.010818	0	0
ANO2	57101	broad.mit.edu	37	12	5672645	5672645	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:5672645G>T	ENST00000356134.5	-	27	2891	c.2820C>A	c.(2818-2820)agC>agA	p.S940R	ANO2_ENST00000327087.8_Missense_Mutation_p.S939R|ANO2_ENST00000546188.1_Missense_Mutation_p.S940R	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	944						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.S939R(1)|p.S940R(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCACTAATAAGCTCTTCTCTT	0.532000													11	32					6.40141e-05	7.61924e-05	0.010729	1	0
PM20D2	135293	broad.mit.edu	37	6	89871553	89871553	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:89871553A>G	ENST00000275072.4	+	6	1195	c.1100A>G	c.(1099-1101)tAt>tGt	p.Y367C		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	367							hydrolase activity	p.Y367C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		ATTCATCCATATTTTCACATT	0.368000													25	67					0	0	0.037714	0	0
RASAL1	8437	broad.mit.edu	37	12	113552717	113552717	+	Splice_Site	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:113552717G>A	ENST00000546530.1	-	13	1354	c.1068_splice	c.e13-1	p.L357_splice	RASAL1_ENST00000261729.5_Splice_Site_p.L357_splice|RASAL1_ENST00000548055.1_Splice_Site_p.L357_splice|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Splice_Site_p.L357_splice	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	357	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.L357F(1)		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						ATGCCCACGAGCTGGGGGCAG	0.637000													10	133					0	0	0.008291	0	0
MAG	4099	broad.mit.edu	37	19	35791291	35791291	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:35791291G>T	ENST00000361922.4	+	6	1104	c.954G>T	c.(952-954)gtG>gtT	p.V318V	MAG_ENST00000537831.2_Silent_p.V293V|MAG_ENST00000392213.3_Silent_p.V318V	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	318	Ig-like C2-type 2.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.V318V(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACCGCACCGTGGGGCTCAGTG	0.652000													8	18					5.18039e-06	6.58341e-06	0.003080	1	0
NLRP6	171389	broad.mit.edu	37	11	284494	284494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:284494C>T	ENST00000534750.1	+	7	2594	c.2389C>T	c.(2389-2391)Cag>Tag	p.Q797*	NLRP6_ENST00000312165.5_Nonsense_Mutation_p.Q798*	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	798						cytoplasm	ATP binding	p.Q798*(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCTGACCCCCAGCGAGGGCT	0.697000													12	14					0	0	0.013537	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163939	141163939	+	Silent	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr3:141163939C>T	ENST00000514251.1	+	4	2988	c.2709C>T	c.(2707-2709)ttC>ttT	p.F903F	ZBTB38_ENST00000441582.2_Silent_p.F903F|ZBTB38_ENST00000321464.5_Silent_p.F904F			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	903					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F903F(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTGAAGTGTTCGATGACGCAA	0.507000													3	16					0	0	0.004672	0	0
FAM160A2	84067	broad.mit.edu	37	11	6236055	6236055	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:6236055C>A	ENST00000265978.4	-	10	2702	c.2344G>T	c.(2344-2346)Gcc>Tcc	p.A782S	FAM160A2_ENST00000449352.2_Missense_Mutation_p.A768S|FAM160A2_ENST00000529360.1_5'UTR	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	768					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.A782S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCAGCTGGGCCACCAGCCCC	0.612000													5	18					3.59834e-05	4.36813e-05	0.021553	1	0
EN1	2019	broad.mit.edu	37	2	119604045	119604045	+	Silent	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:119604045C>T	ENST00000295206.6	-	1	1209	c.699G>A	c.(697-699)ggG>ggA	p.G233G		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	233					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G233G(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCGGGGCTCCCCGCGCCGC	0.761000													3	8					0	0	0.004672	0	0
ZNF98	148198	broad.mit.edu	37	19	22575568	22575568	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:22575568C>A	ENST00000357774.5	-	4	590	c.469G>T	c.(469-471)Gac>Tac	p.D157Y		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D157Y(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ACATATTTGTCATATTGAAAT	0.308000													5	12					0.014758	0.0156223	0.014758	1	0
POLM	27434	broad.mit.edu	37	7	44119252	44119252	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:44119252T>C	ENST00000242248.5	-	4	661	c.560A>G	c.(559-561)aAg>aGg	p.K187R	POLM_ENST00000395831.3_Missense_Mutation_p.K187R|POLM_ENST00000335195.6_Missense_Mutation_p.K187R	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	187					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.K187R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GGGAAGGGCCTTGAGCACCGA	0.622000								DNA polymerases (catalytic subunits)					31	44					0	0	0.015359	0	0
CCDC148	130940	broad.mit.edu	37	2	159195539	159195539	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:159195539T>C	ENST00000283233.5	-	6	858	c.545A>G	c.(544-546)cAg>cGg	p.Q182R	CCDC148_ENST00000409187.1_Missense_Mutation_p.Q191R|CCDC148_ENST00000536771.1_Missense_Mutation_p.Q96R|CCDC148_ENST00000409889.1_Missense_Mutation_p.Q182R	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	182								p.Q182R(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCTATTCTCTGTTGCTCCAG	0.313000													31	70					0	0	0.015359	0	0
SCLT1	132320	broad.mit.edu	37	4	129867262	129867262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr4:129867262C>A	ENST00000281142.5	-	16	1842	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	447						centrosome		p.E447*(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGCATTTCTTCCAGTTTTCTG	0.348000													15	21					1.05317e-09	1.53876e-09	0.020292	1	0
ZNF831	128611	broad.mit.edu	37	20	57829482	57829482	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr20:57829482G>T	ENST00000371030.2	+	5	4718	c.4718G>T	c.(4717-4719)gGa>gTa	p.G1573V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1573						intracellular	nucleic acid binding|zinc ion binding	p.G1573V(1)		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)					CCAGCTTCAGGACCAAGTTCA	0.493000													11	53					0.000673444	0.000757237	0.008291	1	0
FCAR	2204	broad.mit.edu	37	19	55401176	55401176	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:55401176C>A	ENST00000355524.3	+	5	821	c.811C>A	c.(811-813)Cag>Aag	p.Q271K	FCAR_ENST00000345937.4_Missense_Mutation_p.Q175K|FCAR_ENST00000391726.3_Missense_Mutation_p.Q163K|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Missense_Mutation_p.Q162K|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000391724.3_Missense_Mutation_p.Q237K|FCAR_ENST00000391725.3_Missense_Mutation_p.Q249K|FCAR_ENST00000359272.4_Missense_Mutation_p.Q259K	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	271					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.Q271K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CTGGAGCCAACAGATGTGTCA	0.552000													44	120					2.47872e-24	4.67034e-24	0.010771	1	0
CHD9	80205	broad.mit.edu	37	16	53341597	53341597	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:53341597G>T	ENST00000566029.1	+	33	6994	c.6785G>T	c.(6784-6786)cGt>cTt	p.R2262L	CHD9_ENST00000398510.3_Missense_Mutation_p.R2262L|CHD9_ENST00000447540.1_Missense_Mutation_p.R2263L|CHD9_ENST00000564845.1_Missense_Mutation_p.R2262L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2262					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R2263L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTCTAGGATCGTGTGATGATC	0.378000													4	9					0.00024832	0.00028513	0.009096	1	0
C6orf165	154313	broad.mit.edu	37	6	88123581	88123581	+	Missense_Mutation	SNP	G	G	T	rs140621996		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:88123581G>T	ENST00000507897.1	+	4	329	c.246G>T	c.(244-246)aaG>aaT	p.K82N	C6ORF165_ENST00000369562.4_Missense_Mutation_p.K82N			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	82								p.K82N(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACACTATTAAGATGCAAGTCT	0.333000													13	50					7.05477e-17	1.21651e-16	0.033300	1	0
TFAP2D	83741	broad.mit.edu	37	6	50696702	50696702	+	Silent	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:50696702C>T	ENST00000008391.3	+	4	960	c.732C>T	c.(730-732)ctC>ctT	p.L244L	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	244							DNA binding|sequence-specific DNA binding transcription factor activity	p.L244L(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTGAGTGCCTCAATGCTTCAC	0.468000													6	58					0	0	0.021553	0	0
ZNF124	7678	broad.mit.edu	37	1	247319988	247319988	+	Silent	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:247319988A>G	ENST00000340684.6	-	4	888	c.750T>C	c.(748-750)caT>caC	p.H250H	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000543802.2_Silent_p.H312H|ZNF124_ENST00000472531.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H250H(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCTCTCCAGTATGAGTCCTTT	0.413000													37	80					0	0	0.033182	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487490	110487490	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:110487490G>A	ENST00000378402.5	+	51	8853	c.8749G>A	c.(8749-8751)Gga>Aga	p.G2917R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2917					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G2919R(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)			GACATTCTATGGATTCAAGGT	0.353000										HNSCC(38;0.096)			6	34					0	0	0.021553	0	0
SCAPER	49855	broad.mit.edu	37	15	77087629	77087629	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:77087629C>T	ENST00000563290.1	-	8	859	c.764G>A	c.(763-765)cGc>cAc	p.R255H	SCAPER_ENST00000324767.7_Missense_Mutation_p.R255H|SCAPER_ENST00000562890.1_5'UTR|SCAPER_ENST00000538941.2_5'UTR			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	254						endoplasmic reticulum|nucleus	zinc ion binding	p.R255H(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCCATTTTTGCGTGAGGCCTT	0.408000													15	97					0	0	0.006122	0	0
RBM46	166863	broad.mit.edu	37	4	155720237	155720237	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr4:155720237C>T	ENST00000510397.1	+	4	1102	c.923C>T	c.(922-924)cCa>cTa	p.P308L	RBM46_ENST00000281722.3_Missense_Mutation_p.P308L|RBM46_ENST00000514866.1_Missense_Mutation_p.P308L	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	308	RRM 3.						nucleotide binding|RNA binding	p.P308L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTAGCTAAACCAGTAAATAAA	0.383000													12	26					0	0	0.010729	0	0
LCE2C	353140	broad.mit.edu	37	1	152648564	152648564	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:152648564C>A	ENST00000368783.1	+	2	128	c.73C>A	c.(73-75)Cca>Aca	p.P25T	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	25	Cys-rich.				keratinization			p.P25T(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			cccaaaatgtccacctaagtg	0.572000													43	73					2.35958e-20	4.29656e-20	0.036044	1	0
ECE2	9718	broad.mit.edu	37	3	183994288	183994288	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr3:183994288C>G	ENST00000404464.3	+	2	197	c.59C>G	c.(58-60)gCc>gGc	p.A20G	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.A20G	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	endothelin converting enzyme 2	0	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.A20G(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACAAACGGGCCACGCTTCGG	0.667000													5	6					0	0	0.029380	0	0
CHD5	26038	broad.mit.edu	37	1	6194814	6194814	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:6194814G>T	ENST00000262450.3	-	19	3075	c.2976C>A	c.(2974-2976)tgC>tgA	p.C992*	CHD5_ENST00000378021.1_De_novo_Start_OutOfFrame	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	992					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.C992*(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGTGGTTGCAGCACTTTTTCA	0.572000													18	116					3.51602e-12	5.49941e-12	0.008871	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599090	136599090	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:136599090G>T	ENST00000531224.1	-	4	1181	c.929C>A	c.(928-930)gCt>gAt	p.A310D	BCLAF1_ENST00000353331.4_Missense_Mutation_p.A308D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.A308D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.A308D|BCLAF1_ENST00000530767.1_Missense_Mutation_p.A310D|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A310D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	310					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.A310D(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATCTCTTGGAGCATTCTGTGG	0.433000													19	88					7.41877e-09	1.04033e-08	0.012319	1	0
HEPHL1	341208	broad.mit.edu	37	11	93839281	93839281	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:93839281G>T	ENST00000315765.9	+	17	3038	c.3030G>T	c.(3028-3030)gaG>gaT	p.E1010D		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1010	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.E1014D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATCATGCTGAGAGCTTTCTTT	0.358000													50	47					2.23044e-30	4.31926e-30	0.014410	1	0
MAGEB1	4112	broad.mit.edu	37	X	30268940	30268940	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:30268940G>T	ENST00000378981.3	+	4	651	c.330G>T	c.(328-330)tgG>tgT	p.W110C	MAGEB1_ENST00000397548.2_Missense_Mutation_p.W110C|MAGEB1_ENST00000397550.1_Missense_Mutation_p.W110C	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	110	MAGE.							p.W110C(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CTGTAGCCTGGGAGGCAGGAA	0.463000													8	23					1.06961e-07	1.4621e-07	0.003080	1	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	18					0	0	0.004672	0	0
OR8J1	219477	broad.mit.edu	37	11	56128008	56128008	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:56128008G>T	ENST00000303039.3	+	1	318	c.286G>T	c.(286-288)Gaa>Taa	p.E96*		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E96*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CTCATTCTATGAATGTGCCAC	0.418000													13	115					0.00244969	0.00272312	0.020292	1	0
CHRND	1144	broad.mit.edu	37	2	233391241	233391241	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:233391241A>T	ENST00000258385.3	+	2	87	c.55A>T	c.(55-57)Agc>Tgc	p.S19C	CHRND_ENST00000543200.1_Missense_Mutation_p.S19C|CHRND_ENST00000536614.1_Missense_Mutation_p.S19C|CHRND_ENST00000457943.2_5'UTR	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	19					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.S19C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CTCCCCAGGCAGCTGGGGGCT	0.622000													10	62					0	0	0.013537	0	0
DMXL2	23312	broad.mit.edu	37	15	51755682	51755682	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:51755682G>A	ENST00000251076.5	-	33	8104	c.7817C>T	c.(7816-7818)tCt>tTt	p.S2606F	DMXL2_ENST00000543779.2_Missense_Mutation_p.S2607F|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1970F|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2606						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.S2606F(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAATGCAGAAGAATCCCGGGA	0.294000													16	97					0	0	0.007413	0	0
KIF20B	9585	broad.mit.edu	37	10	91497559	91497559	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:91497559G>T	ENST00000416354.1	+	20	3123	c.3051G>T	c.(3049-3051)acG>acT	p.T1017T	KIF20B_ENST00000260753.4_Silent_p.T947T|KIF20B_ENST00000394289.2_Silent_p.T987T|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Silent_p.T987T			Q96Q89	KI20B_HUMAN	kinesin family member 20B	987					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	p.T947T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TAATGCACACGAAAATAGACG	0.333000													5	52					0.014758	0.0156223	0.014758	1	0
USH2A	7399	broad.mit.edu	37	1	216369927	216369927	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:216369927G>T	ENST00000366943.2	-	19	4605	c.4219C>A	c.(4219-4221)Cct>Act	p.P1407T	USH2A_ENST00000307340.3_Missense_Mutation_p.P1407T|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.P1407T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1407	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P1407T(1)		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)		GACTGTTGAGGTGATTGTTCA	0.388000										HNSCC(13;0.011)			32	89					1.45844e-13	2.35668e-13	0.013726	1	0
AGPAT4	56895	broad.mit.edu	37	6	161575192	161575192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:161575192C>A	ENST00000320285.4	-	4	711	c.499G>T	c.(499-501)Gag>Tag	p.E167*	AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366906.5_Nonsense_Mutation_p.E105*|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_Missense_Mutation_p.R110L	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	167					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.E167*(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		AAATACTTCTCGGGGTAGTCC	0.577000													7	36					0.00307968	0.00339251	0.003080	1	0
GABRB3	2562	broad.mit.edu	37	15	26812850	26812850	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:26812850C>A	ENST00000541819.2	-	8	983	c.881G>T	c.(880-882)cGg>cTg	p.R294L	GABRB3_ENST00000545868.1_Missense_Mutation_p.R153L|GABRB3_ENST00000400188.3_Missense_Mutation_p.R167L|GABRB3_ENST00000311550.5_Missense_Mutation_p.R238L|GABRB3_ENST00000299267.4_Missense_Mutation_p.R238L			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	238					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R238L(2)|p.R294L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTCTTCAACCGAAAGCTCAG	0.423000													6	48					2.0095e-06	2.60115e-06	0.029380	1	0
GLS2	27165	broad.mit.edu	37	12	56865309	56865309	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:56865309C>T	ENST00000311966.4	-	18	2049	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	591					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	p.E591K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GACAGGGCCTCAGCTGCTGCC	0.502000													14	20					0	0	0.020292	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237051	30237051	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:30237051G>T	ENST00000378988.4	+	2	455	c.354G>T	c.(352-354)ttG>ttT	p.L118F		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	118	MAGE.						protein binding	p.L118F(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CAGGGTCGTTGGTGCAGTTCC	0.463000													3	19					0.004672	0.00506652	0.004672	1	0
ZNF526	116115	broad.mit.edu	37	19	42728897	42728897	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:42728897C>G	ENST00000301215.3	+	3	567	c.342C>G	c.(340-342)agC>agG	p.S114R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S114R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GTGAATGCAGCCAGCTCATCC	0.627000													8	49					0	0	0.003080	0	0
ZGPAT	84619	broad.mit.edu	37	20	62340383	62340383	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr20:62340383A>G	ENST00000328969.5	+	2	578	c.451A>G	c.(451-453)Atg>Gtg	p.M151V	ZGPAT_ENST00000355969.6_Missense_Mutation_p.M151V|ZGPAT_ENST00000448100.1_Missense_Mutation_p.M151V|ZGPAT_ENST00000369967.3_Missense_Mutation_p.M151V|ZGPAT_ENST00000357119.4_Missense_Mutation_p.M151V|ZGPAT_ENST00000490623.1_3'UTR	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	151					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M151V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TCACAACGCCATGGTGGTGGG	0.607000													28	74					0	0	0.010818	0	0
CUX2	23316	broad.mit.edu	37	12	111785687	111785687	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:111785687G>T	ENST00000261726.6	+	22	4173	c.4019G>T	c.(4018-4020)gGa>gTa	p.G1340V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1340	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G1340V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGTAATGATGGACTCCCAAAA	0.637000													28	59					3.86903e-22	7.15184e-22	0.013726	1	0
FAM160B1	57700	broad.mit.edu	37	10	116608455	116608455	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:116608455G>T	ENST00000369248.4	+	13	2097	c.1762G>T	c.(1762-1764)Ggc>Tgc	p.G588C	FAM160B1_ENST00000369250.3_Missense_Mutation_p.G588C	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	588								p.G588C(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCATGTTGAGGGCACAGGATA	0.428000													4	26					0.00024832	0.00028513	0.009096	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589646	140589646	+	Silent	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:140589646C>T	ENST00000239450.2	+	1	1356	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	PCDHB12_ENST00000541609.1_Silent_p.I52I	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		389	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I389I(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAGGACATCCCATTCGTGC	0.473000													6	20					0	0	0.021553	0	0
ACAD10	80724	broad.mit.edu	37	12	112186168	112186168	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:112186168G>T	ENST00000455480.2	+	18	2803	c.2626G>T	c.(2626-2628)Gac>Tac	p.D876Y	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.D447Y|ACAD10_ENST00000313698.4_Missense_Mutation_p.D845Y	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	845							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.D845Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGGAAAAACAGACCCACATGC	0.532000													11	64					3.86212e-05	4.65362e-05	0.008291	1	0
TTN	7273	broad.mit.edu	37	2	179614227	179614227	+	Silent	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:179614227T>C	ENST00000360870.5	-	46	13122	c.12900A>G	c.(12898-12900)gtA>gtG	p.V4300V	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	433	Ig-like 23.						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)			AATATTCTTTTACATTTGTCC	0.398000													26	72					0	0	0.021523	0	0
CTSG	1511	broad.mit.edu	37	14	25044512	25044512	+	Silent	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr14:25044512C>A	ENST00000216336.2	-	2	198	c.162G>T	c.(160-162)gtG>gtT	p.V54V		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	54	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.V54V(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCTTCTCGCACCAGGAACC	0.602000													7	56					8.12818e-05	9.58105e-05	0.029380	1	0
FBXW8	26259	broad.mit.edu	37	12	117426644	117426644	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:117426644G>T	ENST00000455858.2	+	7	1084	c.1011G>T	c.(1009-1011)caG>caT	p.Q337H	FBXW8_ENST00000309909.5_Missense_Mutation_p.Q403H	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	403							protein binding	p.Q403H(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TTGGTGTACAGGGTCTGGGAT	0.448000													19	92					3.62473e-10	5.40939e-10	0.012319	1	0
SLC17A8	246213	broad.mit.edu	37	12	100796515	100796515	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:100796515A>G	ENST00000323346.5	+	8	1358	c.1045A>G	c.(1045-1047)Ata>Gta	p.I349V	SLC17A8_ENST00000392989.3_Intron	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	349					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.I349V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGGATTTGCAATAAGTAAGGT	0.323000													12	16					0	0	0.016723	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050766	84050766	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:84050766G>C	ENST00000299709.3	-	7	931	c.932C>G	c.(931-933)cCc>cGc	p.P311R		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	311					amino acid transport|sodium ion transport	integral to membrane		p.P311R(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGCACGATGGGGTAGACAGT	0.547000													4	24					0	0	0.009096	0	0
OSBPL7	114881	broad.mit.edu	37	17	45886818	45886818	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:45886818T>A	ENST00000007414.3	-	19	2098	c.1907A>T	c.(1906-1908)aAg>aTg	p.K636M	OSBPL7_ENST00000392507.3_Missense_Mutation_p.K636M	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	636					lipid transport		lipid binding	p.K636M(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GGATGTCACCTTGTTCCACTC	0.567000													10	27					0	0	0.010729	0	0
PTENP1	11191	broad.mit.edu	37	9	33676393	33676393	+	RNA	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr9:33676393G>A	ENST00000532280.1	-	0	1104					NR_023917.1																						AGGATATTGCGCAACTCTGTA	0.368000													23	43					0	0	0.016522	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507397	51507397	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:51507397G>T	ENST00000396402.1	-	8	1044	c.891C>A	c.(889-891)aaC>aaA	p.N297K	CYP19A1_ENST00000559878.1_Missense_Mutation_p.N297K|CYP19A1_ENST00000396404.4_Missense_Mutation_p.N297K|CYP19A1_ENST00000260433.2_Missense_Mutation_p.N297K|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	297					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.N297K(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ATATGCACTGGTTCACATTCT	0.413000													10	78					1.33987e-11	2.06264e-11	0.008291	1	0
CCDC158	339965	broad.mit.edu	37	4	77288728	77288728	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr4:77288728C>A	ENST00000388914.3	-	11	1701	c.1549G>T	c.(1549-1551)Gca>Tca	p.A517S		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	517								p.A517S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GTGATCTCTGCATTGGTAGCC	0.483000													10	49					0.000442599	0.000499973	0.006214	1	0
OR2B11	127623	broad.mit.edu	37	1	247614347	247614347	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:247614347C>A	ENST00000318749.6	-	1	961	c.938G>T	c.(937-939)tGg>tTg	p.W313L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W313L(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	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;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACAGAGCCTCCAGATCCTGGC	0.458000													96	298					4.04957e-52	7.96851e-52	0.014410	1	0
KCNB2	9312	broad.mit.edu	37	8	73848769	73848769	+	Silent	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:73848769A>T	ENST00000523207.1	+	3	1767	c.1179A>T	c.(1177-1179)ctA>ctT	p.L393L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	393					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.L393L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAACATTACTAGGGAAAATTG	0.438000													27	58					0	0	0.027356	0	0
MAP3K15	389840	broad.mit.edu	37	X	19379644	19379644	+	Silent	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:19379644C>A	ENST00000338883.4	-	27	3746	c.3747G>T	c.(3745-3747)cgG>cgT	p.R1249R	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Silent_p.R684R|MAP3K15_ENST00000469203.2_Silent_p.R1081R|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|PDHA1_ENST00000540249.1_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1249							ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.R1296R(1)|p.R724R(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTCCTTGCAGCCGCAACCAGT	0.413000													39	143					1.34996e-11	2.07164e-11	0.036044	1	0
PTPN12	5782	broad.mit.edu	37	7	77261701	77261701	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:77261701C>T	ENST00000248594.6	+	14	2305	c.2033C>T	c.(2032-2034)cCt>cTt	p.P678L	PTPN12_ENST00000415482.2_Missense_Mutation_p.P559L|PTPN12_ENST00000435495.2_Missense_Mutation_p.P548L	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	678						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	p.P678L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CCTCCCCTACCTGAAAGAACT	0.318000													57	104					0	0	0.014410	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968213	64968213	+	Silent	SNP	G	G	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:64968213G>C	ENST00000399262.2	-	10	3434	c.3216C>G	c.(3214-3216)cgC>cgG	p.R1072R	JMJD1C_ENST00000399251.1_Silent_p.R853R|JMJD1C_ENST00000402544.1_Silent_p.R853R|JMJD1C_ENST00000542921.1_Silent_p.R890R	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1072					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.R853R(1)|p.R1072R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGATACTGAGCGTTCTACAT	0.398000													29	196					0	0	0.034045	0	0
NCAM2	4685	broad.mit.edu	37	21	22849786	22849786	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr21:22849786A>G	ENST00000400546.1	+	15	2320	c.2071A>G	c.(2071-2073)Att>Gtt	p.I691V	NCAM2_ENST00000284894.7_Missense_Mutation_p.I549V	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	691					neuron cell-cell adhesion	integral to membrane|plasma membrane		p.I691V(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCCCAACATTATTAAAGGTAA	0.333000													13	55					0	0	0.020292	0	0
USP29	57663	broad.mit.edu	37	19	57642636	57642636	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:57642636T>A	ENST00000254181.4	+	4	3047	c.2593T>A	c.(2593-2595)Tca>Aca	p.S865T	USP29_ENST00000598197.1_Missense_Mutation_p.S865T	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	865					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.S865T(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCAGAAATCTCAGAGACCAA	0.443000													14	39					0	0	0.020292	0	0
PZP	5858	broad.mit.edu	37	12	9317929	9317929	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:9317929G>T	ENST00000261336.2	-	19	2321	c.2293C>A	c.(2293-2295)Cct>Act	p.P765T	PZP_ENST00000381997.2_Missense_Mutation_p.P634T|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.P634T(1)|p.P765T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATGGTGTCAGGGACTGTTACT	0.527000													12	42					9.31168e-06	1.15921e-05	0.016723	1	0
WBSCR17	64409	broad.mit.edu	37	7	71142242	71142242	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:71142242T>A	ENST00000333538.5	+	9	2085	c.1451T>A	c.(1450-1452)cTg>cAg	p.L484Q	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	484	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L484Q(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAGGGGCCGCTGGAGAACCAC	0.537000													19	179					0	0	0.007413	0	0
VWF	7450	broad.mit.edu	37	12	6182795	6182795	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:6182795G>T	ENST00000261405.5	-	8	1241	c.987C>A	c.(985-987)tgC>tgA	p.C329*		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	329	TIL 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.C329*(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGGGCAGCTGCAGCCATCCA	0.532000													9	53					1.12685e-05	1.39216e-05	0.004482	1	0
OR2T2	401992	broad.mit.edu	37	1	248616419	248616419	+	Silent	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:248616419C>A	ENST00000342927.3	+	1	343	c.321C>A	c.(319-321)acC>acA	p.T107T		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T107T(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTACCTGACCCTGATTGGAG	0.547000													31	162					1.99505e-19	3.60587e-19	0.012213	1	0
ATP7A	538	broad.mit.edu	37	X	77275806	77275806	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:77275806G>T	ENST00000341514.6	+	13	2847	c.2692G>T	c.(2692-2694)Ggg>Tgg	p.G898W	ATP7A_ENST00000343533.5_Missense_Mutation_p.G820W|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	898					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.G898W(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TAACCAGAACGGGTCACTGCT	0.448000													13	81					9.31168e-06	1.15921e-05	0.016723	1	0
CDH19	28513	broad.mit.edu	37	18	64172379	64172379	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr18:64172379G>A	ENST00000262150.2	-	12	2281	c.1989C>T	c.(1987-1989)acC>acT	p.T663T	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	663					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T663T(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCCGCATTATGGTACTACTCC	0.463000													72	180					0	0	0.014410	0	0
TENM1	10178	broad.mit.edu	37	X	123556416	123556416	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:123556416T>A	ENST00000422452.2	-	24	4240	c.4177A>T	c.(4177-4179)Att>Ttt	p.I1393F	STAG2_ENST00000469481.1_3'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.I1386F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.I1388F(1)									TGCAGCACAATGTTGTTATCC	0.473000													15	102					0	0	0.020292	0	0
GRID1	2894	broad.mit.edu	37	10	87407154	87407154	+	Splice_Site	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:87407154C>A	ENST00000327946.7	-	13	2083	c.1997_splice	c.e13-1	p.R666_splice	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Splice_Site_p.R237_splice	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	666						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCTGGAAAGTCCTGAAATGCA	0.532000										Multiple Myeloma(13;0.14)			20	105					8.00594e-06	1.00434e-05	0.007413	1	0
ALPPL2	251	broad.mit.edu	37	2	233274340	233274340	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:233274340G>A	ENST00000295453.3	+	11	1409	c.1357G>A	c.(1357-1359)Ggc>Agc	p.G453S		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	453					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.G453S(1)		breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GACCCACGCAGGCGAGGACGT	0.657000													3	13					0	0	0.004672	0	0
CACHD1	57685	broad.mit.edu	37	1	65157011	65157011	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:65157011A>T	ENST00000371073.2	+	27	3592	c.3592A>T	c.(3592-3594)Agc>Tgc	p.S1198C	CACHD1_ENST00000290039.5_Missense_Mutation_p.S1147C|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1198					calcium ion transport	integral to membrane		p.S1147C(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCTAGGTTACAGCACCATGAG	0.483000													18	45					0	0	0.007413	0	0
DMD	1756	broad.mit.edu	37	X	32305735	32305735	+	Silent	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:32305735C>A	ENST00000357033.4	-	43	6407	c.6201G>T	c.(6199-6201)acG>acT	p.T2067T	DMD_ENST00000378677.2_Silent_p.T2063T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2067					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.T726T(1)|p.T2067T(1)|p.T2062T(1)|p.T2063T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCCACAGGCGTTGCACTTT	0.398000													26	50					2.50493e-22	4.66567e-22	0.024334	1	0
MYH3	4621	broad.mit.edu	37	17	10535312	10535312	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:10535312C>G	ENST00000583535.1	-	35	5065	c.4978G>C	c.(4978-4980)Gat>Cat	p.D1660H	MYH3_ENST00000226209.7_Missense_Mutation_p.D1660H	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1660					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.D1660H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CGGAGGGCATCATCCAGGTGG	0.572000													21	20					0	0	0.014323	0	0
MYH1	4619	broad.mit.edu	37	17	10417165	10417165	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:10417165G>T	ENST00000226207.5	-	8	808	c.714C>A	c.(712-714)acC>acA	p.T238T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	238	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.T238T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATTCCTCACGGTCTTGGCGT	0.502000													28	23					3.11337e-16	5.25719e-16	0.013726	1	0
CYP4A11	1579	broad.mit.edu	37	1	47398461	47398461	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:47398461C>T	ENST00000310638.4	-	11	1367	c.1336G>A	c.(1336-1338)Gct>Act	p.A446T	CYP4A11_ENST00000371904.4_Missense_Mutation_p.A447T|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.A446T	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	446					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.A446T(2)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGCAGGAAAGCGTGGCTGTGT	0.517000													57	282					0	0	0.014410	0	0
DMD	1756	broad.mit.edu	37	X	31200972	31200972	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:31200972C>T	ENST00000357033.4	-	68	10063	c.9857G>A	c.(9856-9858)aGa>aAa	p.R3286K	DMD_ENST00000378707.3_Missense_Mutation_p.R826K|DMD_ENST00000378677.2_Missense_Mutation_p.R3282K|DMD_ENST00000378723.3_Missense_Mutation_p.R218K|DMD_ENST00000474231.1_Missense_Mutation_p.R826K|DMD_ENST00000359836.1_Missense_Mutation_p.R826K|DMD_ENST00000343523.2_Missense_Mutation_p.R826K|DMD_ENST00000378702.4_Missense_Mutation_p.R218K|DMD_ENST00000361471.4_Missense_Mutation_p.R218K|DMD_ENST00000378680.2_Missense_Mutation_p.R218K|DMD_ENST00000541735.1_Missense_Mutation_p.R826K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3286	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R1945K(1)|p.R826K(1)|p.R3282K(1)|p.R218K(1)|p.R3281K(1)|p.R3286K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGGTTCCAGTCTCATCCAGTC	0.522000													22	39					0	0	0.012319	0	0
MYO18B	84700	broad.mit.edu	37	22	26194047	26194047	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr22:26194047C>A	ENST00000335473.7	+	12	2754	c.2504C>A	c.(2503-2505)gCg>gAg	p.A835E	MYO18B_ENST00000407587.2_Missense_Mutation_p.A835E|MYO18B_ENST00000536101.1_Missense_Mutation_p.A835E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	835	Myosin head-like.		A -> G (in a lung squamous cell carcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.A835E(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACCTGGGTGCGGCGGGGGCC	0.662000													8	27					9.70103e-10	1.42165e-09	0.008291	1	0
TULP3	7289	broad.mit.edu	37	12	3040343	3040343	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:3040343G>T	ENST00000448120.2	+	6	684	c.633G>T	c.(631-633)agG>agT	p.R211S	TULP3_ENST00000397132.2_Missense_Mutation_p.R211S	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	211					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	p.R211S(1)		endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGGATAAAAGGGGAATGGATC	0.443000													17	79					1.33834e-09	1.93227e-09	0.007413	1	0
NEDD1	121441	broad.mit.edu	37	12	97328824	97328824	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:97328824T>C	ENST00000266742.4	+	7	899	c.560T>C	c.(559-561)gTa>gCa	p.V187A	NEDD1_ENST00000429527.2_Missense_Mutation_p.V187A|NEDD1_ENST00000557644.1_Missense_Mutation_p.V194A|NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000411739.2_Missense_Mutation_p.V98A|NEDD1_ENST00000457368.2_Missense_Mutation_p.V98A	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	187					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		p.V187A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						AATGGAATAGTAACTCTCTGG	0.373000													9	139					0	0	0.010729	0	0
KRTAP3-3	85293	broad.mit.edu	37	17	39150336	39150336	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:39150336G>A	ENST00000391586.1	-	1	49	c.14C>T	c.(13-15)gCc>gTc	p.A5V		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	5	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity	p.A5V(1)		lung(2)|prostate(2)	4		Breast(137;0.00043)				GCCTCGAGAGGCACAGCAATC	0.547000													31	84					0	0	0.009535	0	0
COL3A1	1281	broad.mit.edu	37	2	189876399	189876399	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:189876399C>A	ENST00000304636.3	+	51	4470	c.4300C>A	c.(4300-4302)Cgc>Agc	p.R1434S	COL3A1_ENST00000317840.5_Missense_Mutation_p.R1131S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1434	Fibrillar collagen NC1.		R -> C (in a colorectal cancer sample; somatic mutation).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.R1434C(1)|p.R1434S(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATATCGAACACGCAAGGCTGT	0.393000													27	70					4.87955e-14	7.96395e-14	0.027356	1	0
ZFP30	22835	broad.mit.edu	37	19	38126043	38126043	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:38126043C>A	ENST00000351218.2	-	6	1956	c.1399G>T	c.(1399-1401)Gac>Tac	p.D467Y	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.D467Y|ZFP30_ENST00000392144.1_Missense_Mutation_p.D467Y	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D467Y(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCTTACAGTCATAGGGCTTT	0.373000													15	74					4.7546e-09	6.70592e-09	0.028581	1	0
MERTK	10461	broad.mit.edu	37	2	112755053	112755053	+	Splice_Site	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:112755053G>T	ENST00000295408.4	+	10	1861	c.1604_splice	c.e10+1	p.G535_splice	MERTK_ENST00000421804.2_Splice_Site_p.G535_splice|MERTK_ENST00000409780.1_Splice_Site_p.G359_splice			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	535					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G535V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACAAAGTTTGGGTAAGTCTCC	0.423000													19	32					2.54575e-18	4.53403e-18	0.010504	1	0
FAM47B	170062	broad.mit.edu	37	X	34962613	34962613	+	Silent	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:34962613T>A	ENST00000329357.5	+	1	1701	c.1665T>A	c.(1663-1665)ccT>ccA	p.P555P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	555								p.P555P(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ACTTCGAGCCTAAGTTGGGGA	0.493000													46	51					0	0	0.013114	0	0
PKD2	5311	broad.mit.edu	37	4	88959554	88959554	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr4:88959554C>G	ENST00000237596.2	+	4	1061	c.995C>G	c.(994-996)tCt>tGt	p.S332C		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	332						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	p.S332C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GGATCCTGCTCTATCCCCCAG	0.488000													18	27					0	0	0.007413	0	0
CD5L	922	broad.mit.edu	37	1	157805822	157805822	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:157805822A>G	ENST00000368174.4	-	3	275	c.179T>C	c.(178-180)gTg>gCg	p.V60A	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	60	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.V60A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCGGCACAACACAGCCACGTC	0.592000													24	160					0	0	0.016522	0	0
ZNF536	9745	broad.mit.edu	37	19	31040344	31040344	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:31040344C>T	ENST00000355537.3	+	4	3965	c.3818C>T	c.(3817-3819)tCt>tTt	p.S1273F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.S1273F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCTACAGTTCTGATGGCTTA	0.557000													4	53					0	0	0.029380	0	0
ADCY6	112	broad.mit.edu	37	12	49170959	49170959	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:49170959C>A	ENST00000307885.4	-	5	1998	c.1304G>T	c.(1303-1305)gGg>gTg	p.G435V	ADCY6_ENST00000357869.3_Missense_Mutation_p.G435V|ADCY6_ENST00000550422.1_Missense_Mutation_p.G435V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	435					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.G435L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTCCGGCAGCCCTGACACACA	0.557000													28	85					4.87955e-14	7.96395e-14	0.027356	1	0
FZD7	8324	broad.mit.edu	37	2	202899689	202899689	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:202899689G>T	ENST00000286201.1	+	1	380	c.319G>T	c.(319-321)Gcg>Tcg	p.A107S		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	107	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A107S(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CTCCATGTATGCGCCCGTGTG	0.622000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	53					1.99824e-07	2.70872e-07	0.033300	1	0
HEATR1	55127	broad.mit.edu	37	1	236746130	236746130	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:236746130C>A	ENST00000366582.3	-	19	2582	c.2468G>T	c.(2467-2469)aGg>aTg	p.R823M	HEATR1_ENST00000366581.2_Missense_Mutation_p.R823M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	823					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.R823M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CAGATAGTCCCTGCTGTCTTC	0.423000													20	42					1.40151e-16	2.39978e-16	0.010504	1	0
MSLN	10232	broad.mit.edu	37	16	816697	816697	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:816697G>T	ENST00000566549.1	+	13	1677	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N	MSLN_ENST00000382862.3_Missense_Mutation_p.K428N|MSLN_ENST00000563941.1_Missense_Mutation_p.K420N|MSLN_ENST00000545450.2_Missense_Mutation_p.K420N			Q13421	MSLN_HUMAN	mesothelin	428					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		p.K428N(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCTTTGTGAAGGGAAGGGGCC	0.632000													20	43					4.35082e-09	6.1542e-09	0.010504	1	0
NTRK3	4916	broad.mit.edu	37	15	88483959	88483959	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:88483959G>A	ENST00000394480.1	-	15	1932	c.1611C>T	c.(1609-1611)gaC>gaT	p.D537D	NTRK3_ENST00000360948.2_Silent_p.D537D|NTRK3_ENST00000557856.1_Silent_p.D529D|NTRK3_ENST00000542733.2_Silent_p.D439D|NTRK3_ENST00000355254.2_Silent_p.D537D|NTRK3_ENST00000357724.2_Silent_p.D529D|NTRK3_ENST00000558676.1_Silent_p.D529D	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	537					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.D537D(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCAGCACGATGTCTCTCCTCT	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			13	102					0	0	0.020292	0	0
OR4N2	390429	broad.mit.edu	37	14	20296384	20296384	+	Silent	SNP	G	G	A	rs149732016	byFrequency	TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr14:20296384G>A	ENST00000315947.1	+	1	777	c.777G>A	c.(775-777)acG>acA	p.T259T	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T259T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATCTACACGCGCCCCTTCA	0.468000													15	83					0	0	0.020292	0	0
STC1	6781	broad.mit.edu	37	8	23711941	23711941	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:23711941G>T	ENST00000290271.2	-	1	379	c.96C>A	c.(94-96)tcC>tcA	p.S32S		NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	32					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.S32S(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CCGCCACTCGGGATTTCCTGG	0.532000													10	46					7.48243e-07	9.89546e-07	0.006214	1	0
RERGL	79785	broad.mit.edu	37	12	18234173	18234173	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:18234173C>A	ENST00000229002.2	-	6	776	c.570G>T	c.(568-570)atG>atT	p.M190I	RERGL_ENST00000538724.1_Missense_Mutation_p.M189I	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	190	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.M190I(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TCAATTTGGCCATTGATTTAG	0.363000													10	43					0.00621372	0.00667906	0.006214	1	0
GPC3	2719	broad.mit.edu	37	X	132887866	132887866	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:132887866G>T	ENST00000370818.3	-	3	1120	c.675C>A	c.(673-675)gtC>gtA	p.V225V	GPC3_ENST00000543339.1_Silent_p.V171V|GPC3_ENST00000394299.2_Silent_p.V225V	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	225						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	p.V225V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGATCCTAGTGACTTGCAGTG	0.463000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				18	95					4.96729e-08	6.84756e-08	0.008871	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110520355	110520355	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:110520355C>T	ENST00000378402.5	+	70	11361	c.11257C>T	c.(11257-11259)Ctt>Ttt	p.L3753F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3753					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L3757F(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)			CTGTAAGTACCTTCCAGAGTG	0.353000										HNSCC(38;0.096)			14	84					0	0	0.028581	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19297443	19297443	+	Splice_Site	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:19297443C>G	ENST00000454498.2	-	6	1865		c.e6-1		CSGALNACT1_ENST00000522854.1_Splice_Site|CSGALNACT1_ENST00000311540.4_Splice_Site|CSGALNACT1_ENST00000544602.1_Splice_Site|CSGALNACT1_ENST00000518542.1_Splice_Site|CSGALNACT1_ENST00000332246.6_Splice_Site	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1						anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	p.?(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GCACATCTCCCTGGAAAACAA	0.413000													10	32					0	0	0.010729	0	0
RMDN1	51115	broad.mit.edu	37	8	87498840	87498840	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:87498840C>A	ENST00000406452.3	-	4	527	c.368G>T	c.(367-369)cGg>cTg	p.R123L	RMDN1_ENST00000523911.1_Missense_Mutation_p.R79L|RMDN1_ENST00000519966.1_Missense_Mutation_p.R123L|RMDN1_ENST00000430676.2_Missense_Mutation_p.R123L|CPNE3_ENST00000198765.4_Intron	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1									p.R123L(1)									ACGTGATGCCCGTGCCAAACG	0.373000													33	41					4.4194e-11	6.73959e-11	0.013726	1	0
AGO3	192669	broad.mit.edu	37	1	36501854	36501854	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:36501854C>A	ENST00000373191.4	+	14	2177	c.1828C>A	c.(1828-1830)Cct>Act	p.P610T	AGO3_ENST00000246314.6_Missense_Mutation_p.P376T	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3									p.P610T(1)									TGGAAAGAAGCCTTCTATTGC	0.398000													16	67					3.99206e-14	6.5815e-14	0.007413	1	0
MUC16	94025	broad.mit.edu	37	19	9059194	9059194	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:9059194C>A	ENST00000397910.4	-	3	28455	c.28252G>T	c.(28252-28254)Gat>Tat	p.D9418Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9420	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D5051Y(1)|p.D9418Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATGACACATCCTCAGGACCT	0.512000													36	52					1.414e-09	2.03549e-09	0.017118	1	0
TLL2	7093	broad.mit.edu	37	10	98192671	98192671	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:98192671G>T	ENST00000357947.3	-	4	638	c.413C>A	c.(412-414)gCc>gAc	p.A138D	TLL2_ENST00000469598.1_Intron	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	138					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A138D(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTGGCTGCGGCATGCAAGGT	0.552000													13	42					4.36969e-10	6.48149e-10	0.016723	1	0
HRC	3270	broad.mit.edu	37	19	49657099	49657099	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:49657099G>A	ENST00000252825.4	-	1	1582	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	HRC_ENST00000595625.1_Missense_Mutation_p.P466S	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	466					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.P466S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GTGTGTCCTGGGGGGTGATGG	0.547000													36	109					0	0	0.023175	0	0
HMGCR	3156	broad.mit.edu	37	5	74652176	74652176	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:74652176G>T	ENST00000287936.4	+	15	2045	c.1889G>T	c.(1888-1890)cGt>cTt	p.R630L	HMGCR_ENST00000511206.1_Missense_Mutation_p.R630L|HMGCR_ENST00000343975.5_Missense_Mutation_p.R577L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	630	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	p.R630L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	AGATTTGCACGTCTACAGAAA	0.353000													19	46					1.01871e-10	1.53911e-10	0.008871	1	0
ZNF688	146542	broad.mit.edu	37	16	30581633	30581633	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:30581633G>A	ENST00000223459.6	-	3	1539	c.435C>T	c.(433-435)agC>agT	p.S145S	ZNF688_ENST00000395219.1_Silent_p.S131S	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S145S(1)|p.S131S(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCGGGGCCACGCTAATAGCTG	0.627000													6	35					0	0	0.021553	0	0
AIPL1	23746	broad.mit.edu	37	17	6330265	6330265	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:6330265C>A	ENST00000381129.3	-	4	658	c.578G>T	c.(577-579)cGc>cTc	p.R193L	AIPL1_ENST00000571740.1_Missense_Mutation_p.R185L|AIPL1_ENST00000250087.5_Missense_Mutation_p.R130L|AIPL1_ENST00000570466.1_Missense_Mutation_p.R171L|AIPL1_ENST00000575265.1_Missense_Mutation_p.R193L|AIPL1_ENST00000576776.1_Missense_Mutation_p.R193L|AIPL1_ENST00000576307.1_Missense_Mutation_p.R133L|AIPL1_ENST00000574506.1_Missense_Mutation_p.R181L	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	193					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	p.R193L(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CTCCTCGTAGCGGCCCAGCTT	0.597000													51	49					9.52127e-25	1.80793e-24	0.014410	1	0
PRLR	5618	broad.mit.edu	37	5	35068324	35068324	+	Silent	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:35068324C>T	ENST00000382002.5	-	9	1275	c.849G>A	c.(847-849)ctG>ctA	p.L283L	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Silent_p.L283L|PRLR_ENST00000231423.3_Silent_p.L283L|PRLR_ENST00000342362.5_Silent_p.L182L|PRLR_ENST00000542609.1_Silent_p.L283L|PRLR_ENST00000513753.1_Silent_p.L283L|PRLR_ENST00000511486.1_Silent_p.L182L	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	283					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.L283L(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTACCTCCAACAGATGAGCAT	0.433000													11	156					0	0	0.013537	0	0
TLR4	7099	broad.mit.edu	37	9	120476448	120476448	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr9:120476448C>A	ENST00000355622.6	+	3	2143	c.2042C>A	c.(2041-2043)tCa>tAa	p.S681*	TLR4_ENST00000394487.4_Nonsense_Mutation_p.S641*|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	681	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.S681*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTTATCTACTCAAGCCAGGAT	0.428000													23	40					1.64293e-13	2.64604e-13	0.018920	1	0
SMG9	56006	broad.mit.edu	37	19	44251914	44251914	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:44251914C>A	ENST00000601170.1	-	4	675	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C	SMG9_ENST00000270066.6_Missense_Mutation_p.G121C			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	121	Pro-rich.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	p.G121C(1)		kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						GGGGCGGTGCCCTCAGGGGTA	0.682000													9	28					0.000274275	0.000313457	0.004482	1	0
USP43	124739	broad.mit.edu	37	17	9578299	9578299	+	Translation_Start_Site	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:9578299A>T	ENST00000570827.2	+	0	973				USP43_ENST00000575346.1_3'UTR|USP43_ENST00000570475.1_Splice_Site_p.R278_splice|USP43_ENST00000285199.6_Splice_Site_p.R278_splice			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R279W(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GCGCCAGACGAGGTACGTGAG	0.537000													76	93					0	0	0.014410	0	0
CHST7	56548	broad.mit.edu	37	X	46433945	46433945	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:46433945C>A	ENST00000276055.3	+	1	727	c.579C>A	c.(577-579)ttC>ttA	p.F193L		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	193					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity	p.F193L(1)		breast(3)|endometrium(2)|kidney(1)|lung(2)	8						CCGCCCTCTTCCGCTGGCGGA	0.726000													4	7					0.00024832	0.00028513	0.009096	1	0
CLEC1B	51266	broad.mit.edu	37	12	10150960	10150960	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:10150960G>A	ENST00000298527.6	-	2	263	c.84C>T	c.(82-84)tcC>tcT	p.S28S	CLEC1B_ENST00000348658.4_Intron|CLEC1B_ENST00000428126.2_Intron	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	28			S -> F (in dbSNP:rs2273987).		cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	p.S28S(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CACGCCACCAGGAGGAGGATG	0.557000													22	36					0	0	0.012319	0	0
OAS2	4939	broad.mit.edu	37	12	113436106	113436106	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:113436106A>T	ENST00000392583.2	+	5	1106	c.899A>T	c.(898-900)aAt>aTt	p.N300I	OAS2_ENST00000342315.4_Missense_Mutation_p.N300I|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	300	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.N300I(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCAACCAATAATGTGAGTGGA	0.423000													69	80					0	0	0.014410	0	0
C8orf22	492307	broad.mit.edu	37	8	49986879	49986879	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:49986879C>A	ENST00000303202.8	+	4	393	c.220C>A	c.(220-222)Ctg>Atg	p.L74M	C8orf22_ENST00000399653.4_Missense_Mutation_p.L74M|C8orf22_ENST00000522267.1_Missense_Mutation_p.L74M|C8orf22_ENST00000517663.1_Missense_Mutation_p.L74M	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	74								p.L74M(1)		large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				AATAAAAGATCTGTCTGCTAC	0.388000													4	34					0.014758	0.0156223	0.014758	1	0
MTO1	25821	broad.mit.edu	37	6	74183111	74183111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:74183111G>T	ENST00000498286.1	+	4	836	c.559G>T	c.(559-561)Gag>Tag	p.E187*	MTO1_ENST00000415954.2_Nonsense_Mutation_p.E187*|MTO1_ENST00000370300.4_Nonsense_Mutation_p.E187*|MTO1_ENST00000370305.1_Nonsense_Mutation_p.E113*|MTO1_ENST00000518210.1_3'UTR			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	187					tRNA processing	mitochondrion	flavin adenine dinucleotide binding	p.E187*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						AGTATATGCAGAGAGTGTGAT	0.368000													22	37					1.42536e-11	2.18048e-11	0.024334	1	0
TEX15	56154	broad.mit.edu	37	8	30705647	30705647	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:30705647C>T	ENST00000256246.2	-	1	961	c.887G>A	c.(886-888)tGt>tAt	p.C296Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	296								p.C296Y(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATTTTATCACAGCTTTTCCC	0.303000													22	35					0	0	0.012319	0	0
LCTL	197021	broad.mit.edu	37	15	66850109	66850109	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:66850109G>T	ENST00000341509.5	-	8	1004	c.873C>A	c.(871-873)gcC>gcA	p.A291A	LCTL_ENST00000537670.1_Silent_p.A118A	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	291					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.A291A(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAATGGGGTTGGCAAACCAGC	0.498000													34	70					1.60099e-16	2.71278e-16	0.021022	1	0
SOX17	64321	broad.mit.edu	37	8	55370910	55370910	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:55370910C>A	ENST00000297316.4	+	1	416	c.212C>A	c.(211-213)cCg>cAg	p.P71Q		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	71					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.P71Q(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			ATCCGGCGGCCGATGAACGCT	0.677000													6	15					3.59834e-05	4.36813e-05	0.021553	1	0
APOA4	337	broad.mit.edu	37	11	116692349	116692349	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:116692349A>T	ENST00000357780.3	-	3	539	c.425T>A	c.(424-426)cTg>cAg	p.L142Q		NM_000482.3	NP_000473.2			apolipoprotein A-IV									p.L142Q(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CTGGGTGCGCAGCTGGTCCGC	0.687000													15	6					0	0	0.024245	0	0
RSBN1L	222194	broad.mit.edu	37	7	77378976	77378976	+	Silent	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:77378976T>C	ENST00000334955.7	+	3	966	c.939T>C	c.(937-939)taT>taC	p.Y313Y	RSBN1L_ENST00000445288.1_Silent_p.Y43Y	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	313						nucleus		p.Y313Y(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAAGAACTATGATTCCAAAA	0.378000													39	57					0	0	0.027894	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360984	105360984	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:105360984G>A	ENST00000297581.2	+	2	253	c.204G>A	c.(202-204)acG>acA	p.T68T	DCSTAMP_ENST00000517991.1_Silent_p.T68T|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	68					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.T68T(1)									GGATTATCACGTGTGTTCTGC	0.507000													7	88					0	0	0.003080	0	0
MYH4	4622	broad.mit.edu	37	17	10366242	10366242	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:10366242G>T	ENST00000255381.2	-	11	1058	c.948C>A	c.(946-948)gtC>gtA	p.V316V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	316	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V316V(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCCCTTGGCTGACAAATGCGA	0.393000													38	37					9.9191e-30	1.91325e-29	0.033182	1	0
KCNT1	57582	broad.mit.edu	37	9	138670655	138670655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr9:138670655C>T	ENST00000298480.5	+	23	2790	c.2716C>T	c.(2716-2718)Cag>Tag	p.Q906*	KCNT1_ENST00000491806.2_Nonsense_Mutation_p.Q873*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.Q906*|KCNT1_ENST00000490355.2_Nonsense_Mutation_p.Q885*|KCNT1_ENST00000263604.3_Nonsense_Mutation_p.Q887*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.Q861*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.Q865*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.Q887*			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	906						membrane	binding|calcium-activated potassium channel activity	p.Q906*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGTCAACGTGCAGACCATGTT	0.637000													4	19					0	0	0.009096	0	0
TSC1	7248	broad.mit.edu	37	9	135797349	135797349	+	Nonsense_Mutation	SNP	C	C	A	rs118203392		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr9:135797349C>A	ENST00000298552.3	-	7	741	c.520G>T	c.(520-522)Gaa>Taa	p.E174*	TSC1_ENST00000403810.1_Nonsense_Mutation_p.E174*|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Nonsense_Mutation_p.E174*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.E123*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	174					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.E174*(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AGATAGACTTCCGCCACGTGG	0.483000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				15	47					2.32078e-09	3.31153e-09	0.024245	1	0
FIZ1	84922	broad.mit.edu	37	19	56104097	56104097	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:56104097G>A	ENST00000221665.3	-	3	1299	c.1210C>T	c.(1210-1212)Ccg>Tcg	p.P404S		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	p.P404S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GAGCCAGACGGGGGTTCCCCG	0.731000													13	22					0	0	0.006122	0	0
PTPN9	5780	broad.mit.edu	37	15	75815560	75815560	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:75815560G>A	ENST00000306726.2	-	4	836	c.324C>T	c.(322-324)tcC>tcT	p.S108S		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	108	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.S108S(1)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGAGGGCAATGGAGGCTCCTG	0.403000													10	30					0	0	0.008291	0	0
SCML2	10389	broad.mit.edu	37	X	18260586	18260586	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:18260586G>T	ENST00000251900.4	-	14	2106	c.1947C>A	c.(1945-1947)ggC>ggA	p.G649G	SCML2_ENST00000398048.3_Intron	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	649	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.G649E(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CGGCGAGGGGGCCTGATATCT	0.473000													16	42					1.56452e-12	2.46286e-12	0.007413	1	0
COL19A1	1310	broad.mit.edu	37	6	70890390	70890390	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:70890390G>T	ENST00000322773.4	+	44	2852	c.2750G>T	c.(2749-2751)gGa>gTa	p.G917V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G539V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	917	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.G917V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGTTTCCCTGGACCAGAAGGA	0.408000													27	60					1.80694e-10	2.72157e-10	0.009535	1	0
GGH	8836	broad.mit.edu	37	8	63927974	63927974	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:63927974C>A	ENST00000260118.6	-	9	1276	c.874G>T	c.(874-876)Gag>Tag	p.E292*		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	292	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	p.E292*(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	GCTTTCTCCTCTTCAGATTCA	0.279000													4	26					0.00909568	0.00971267	0.009096	1	0
C1orf52	148423	broad.mit.edu	37	1	85724262	85724262	+	Silent	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:85724262T>C	ENST00000471115.1	-	2	428	c.420A>G	c.(418-420)ccA>ccG	p.P140P	C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Silent_p.P140P	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	140								p.P140P(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		TAGCATTCTGTGGAGCATCAT	0.478000													73	140					0	0	0.014410	0	0
FBXO43	286151	broad.mit.edu	37	8	101153696	101153696	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:101153696G>A	ENST00000428847.2	-	2	1102	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	262					meiosis		zinc ion binding	p.I228I(2)|p.I262I(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGTCATGTGTGATAGAGTCTT	0.378000													26	33					0	0	0.018920	0	0
CSPG4	1464	broad.mit.edu	37	15	75981627	75981627	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:75981627C>G	ENST00000308508.5	-	3	1871	c.1779G>C	c.(1777-1779)caG>caC	p.Q593H		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	593	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.Q593H(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGCCAAGGACCTGGAAGGTGA	0.672000													6	20					0	0	0.029380	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873798	48873798	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:48873798A>G	ENST00000394754.1	+	8	2821	c.2707A>G	c.(2707-2709)Att>Gtt	p.I903V	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.I856V|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.I165V|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I903V|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.I199V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I903V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I903V	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		856					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.I903V(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCAACCCGCAATTCTACCTTC	0.403000													24	45					0	0	0.024334	0	0
ZNF521	25925	broad.mit.edu	37	18	22804890	22804890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr18:22804890G>A	ENST00000361524.3	-	4	3140	c.2992C>T	c.(2992-2994)Cag>Tag	p.Q998*	ZNF521_ENST00000538137.2_Nonsense_Mutation_p.Q998*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.Q778*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	998					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.Q998*(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCTTCACTCTGGAGAGGCATC	0.493000			T	PAX5	ALL								13	39					0	0	0.016723	0	0
TPTE	7179	broad.mit.edu	37	21	10944750	10944750	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr21:10944750C>A	ENST00000298232.7	-	10	797	c.430G>T	c.(430-432)Gat>Tat	p.D144Y	TPTE_ENST00000342420.5_Missense_Mutation_p.D124Y|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D162Y	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	162			R -> Q (in a breast cancer sample; somatic mutation).		signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D162Y(2)|p.D144Y(2)		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)		ATGGCAGTATCTAAAATGTTA	0.308000													9	109					1.33987e-11	2.06264e-11	0.008291	1	0
TIAM2	26230	broad.mit.edu	37	6	155458398	155458398	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:155458398G>T	ENST00000461783.3	+	7	2555	c.1282G>T	c.(1282-1284)Gct>Tct	p.A428S	TIAM2_ENST00000456144.1_Missense_Mutation_p.A428S|TIAM2_ENST00000318981.5_Missense_Mutation_p.A428S|TIAM2_ENST00000360366.4_Missense_Mutation_p.A428S|TIAM2_ENST00000529824.2_Missense_Mutation_p.A428S|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	428					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.A428S(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCAGGCATCTGCTTTTCTGTG	0.527000													11	69					2.80697e-09	3.98199e-09	0.010729	1	0
SNTG1	54212	broad.mit.edu	37	8	51621516	51621516	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:51621516T>C	ENST00000522124.1	+	17	1923	c.1262T>C	c.(1261-1263)aTc>aCc	p.I421T	SNTG1_ENST00000276467.5_Missense_Mutation_p.I421T|SNTG1_ENST00000518864.1_Missense_Mutation_p.I421T|SNTG1_ENST00000517473.1_Missense_Mutation_p.I421T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	421					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.I421T(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACAGGATTTATCTGCTTTGAT	0.373000													13	53					0	0	0.016723	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967293	106967293	+	RNA	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr14:106967293G>A	ENST00000390622.2	-	0	410																											AACCTTCACTGAGGCCCCAGG	0.562000													6	44					0	0	0.021553	0	0
NF1	4763	broad.mit.edu	37	17	29663445	29663445	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:29663445C>T	ENST00000358273.4	+	41	6484	c.6101C>T	c.(6100-6102)aCt>aTt	p.T2034I	NF1_ENST00000356175.3_Missense_Mutation_p.T2013I|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2034					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.T2034I(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGGCAGATACTGCTGTAGCT	0.393000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			15	62					0	0	0.033300	0	0
USP6NL	9712	broad.mit.edu	37	10	11505455	11505455	+	Nonsense_Mutation	SNP	G	G	T	rs35440878		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:11505455G>T	ENST00000379237.1	-	15	1866	c.1472C>A	c.(1471-1473)tCa>tAa	p.S491*	USP6NL_ENST00000277575.5_Nonsense_Mutation_p.S508*	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	491						intracellular	Rab GTPase activator activity	p.S508*(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TGAGACGTCTGACGGTTTATT	0.527000													23	143					1.55469e-16	2.65276e-16	0.018920	1	0
SLC7A9	11136	broad.mit.edu	37	19	33350773	33350773	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:33350773G>A	ENST00000023064.4	-	8	1038	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	SLC7A9_ENST00000590341.1_Missense_Mutation_p.L283F|SLC7A9_ENST00000587772.1_Missense_Mutation_p.L283F	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	283					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	p.L283F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GACTGCAGGAGTTCGGTGGCA	0.617000													4	44					0	0	0.009096	0	0
GRIK3	2899	broad.mit.edu	37	1	37271752	37271752	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:37271752A>G	ENST00000373091.3	-	14	2283	c.2267T>C	c.(2266-2268)aTc>aCc	p.I756T	GRIK3_ENST00000373093.4_Missense_Mutation_p.I756T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	756					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.I756T(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GAGGCCCCCGATCTGGGTGAG	0.662000													16	29					0	0	0.006122	0	0
OR1C1	26188	broad.mit.edu	37	1	247921653	247921653	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:247921653C>A	ENST00000408896.2	-	1	329	c.56G>T	c.(55-57)aGc>aTc	p.S19I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S19I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTCTGCTGAGCTAGGAAGTCC	0.423000													7	19					2.0095e-06	2.60115e-06	0.029380	1	0
CNGA3	1261	broad.mit.edu	37	2	99012551	99012551	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:99012551G>C	ENST00000393504.1	+	8	1335	c.918G>C	c.(916-918)ttG>ttC	p.L306F	CNGA3_ENST00000436404.2_Missense_Mutation_p.L288F|CNGA3_ENST00000272602.2_Missense_Mutation_p.L306F|CNGA3_ENST00000409937.1_Missense_Mutation_p.L310F	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	306					signal transduction|visual perception	integral to membrane	cGMP binding	p.L306F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTGGGAACTTGGTCTTGTACA	0.463000													11	61					0	0	0.008291	0	0
U2AF2	11338	broad.mit.edu	37	19	56172460	56172460	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:56172460G>T	ENST00000450554.2	+	5	1350	c.391G>T	c.(391-393)Gct>Tct	p.A131S	U2AF2_ENST00000308924.4_Missense_Mutation_p.A131S	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	131					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	p.A131S(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TGACGGTCTGGCTGTGACCCC	0.597000													13	40					2.48551e-13	3.98989e-13	0.033300	1	0
FLG	2312	broad.mit.edu	37	1	152275876	152275876	+	Missense_Mutation	SNP	C	C	T	rs145079750		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:152275876C>T	ENST00000368799.1	-	3	11521	c.11486G>A	c.(11485-11487)cGt>cAt	p.R3829H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3829	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R3829H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATGGTGACGCGACCCTGA	0.587000									Ichthyosis				28	321					0	0	0.021022	0	0
SCML2	10389	broad.mit.edu	37	X	18260587	18260587	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:18260587C>T	ENST00000251900.4	-	14	2105	c.1946G>A	c.(1945-1947)gGc>gAc	p.G649D	SCML2_ENST00000398048.3_Intron	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	649	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.G649E(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GGCGAGGGGGCCTGATATCTG	0.478000													16	44					0	0	0.007413	0	0
C16orf58	64755	broad.mit.edu	37	16	31504879	31504879	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:31504879T>C	ENST00000430477.2	-	7	898	c.577A>G	c.(577-579)Act>Gct	p.T193A	C16orf58_ENST00000570164.1_Intron|C16orf58_ENST00000327237.2_Intron|C16orf58_ENST00000567994.1_Intron			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	0						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GCCTAGGCAGTGGGAGAGGTT	0.632000													3	23					0	0	0.009096	0	0
SNHG14	104472715	broad.mit.edu	37	15	25296703	25296703	+	RNA	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:25296703A>T	ENST00000549804.2	+	0	98				SNORD116-1_ENST00000384335.1_RNA|SNHG14_ENST00000552781.1_RNA|SNHG14_ENST00000547292.1_RNA																							CGTCATTCTCATCGGAACTGA	0.488000													16	83					0	0	0.008871	0	0
DOCK4	9732	broad.mit.edu	37	7	111368560	111368560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:111368560C>A	ENST00000428084.1	-	53	5970	c.5698G>T	c.(5698-5700)Gag>Tag	p.E1900*	DOCK4_ENST00000494651.2_Nonsense_Mutation_p.E774*|DOCK4_ENST00000437633.1_Nonsense_Mutation_p.E1891*			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1891	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.E1891*(1)|p.E1850*(1)		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)				CGCACTGGCTCCTCCCCGCCG	0.667000													9	28					1.58986e-06	2.08563e-06	0.008291	1	0
SCN3A	6328	broad.mit.edu	37	2	165970389	165970389	+	Silent	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:165970389A>G	ENST00000360093.3	-	20	4097	c.3606T>C	c.(3604-3606)atT>atC	p.I1202I	SCN3A_ENST00000283254.7_Silent_p.I1202I|SCN3A_ENST00000409101.3_Silent_p.I1153I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1202						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I1202I(1)|p.I1153I(1)		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)	TGTGCTCAACAATACTGTAGC	0.383000													43	95					0	0	0.013114	0	0
DSG4	147409	broad.mit.edu	37	18	28979267	28979267	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr18:28979267G>T	ENST00000359747.4	+	9	1067	c.1038G>T	c.(1036-1038)caG>caT	p.Q346H	RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.Q346H|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	346	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.Q346H(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTAACATTCAGCTTAGTATCG	0.373000													26	90					3.7963e-18	6.66402e-18	0.018920	1	0
BRI3BP	140707	broad.mit.edu	37	12	125509731	125509731	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:125509731G>A	ENST00000341446.8	+	3	602	c.511G>A	c.(511-513)Gtg>Atg	p.V171M		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	171						integral to membrane|mitochondrial outer membrane		p.V171M(1)		large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CATGTCCTGCGTGTACATCCT	0.607000													14	76					0	0	0.016723	0	0
KIAA1467	57613	broad.mit.edu	37	12	13215867	13215867	+	Silent	SNP	C	C	T	rs146598933	byFrequency	TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:13215867C>T	ENST00000197268.8	+	5	930	c.810C>T	c.(808-810)gaC>gaT	p.D270D		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	270						integral to membrane		p.D270D(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGGATGAAGACGGTGTTCGAG	0.448000													42	242					0	0	0.014410	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474663	140474663	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:140474663C>A	ENST00000194155.4	+	1	437	c.289C>A	c.(289-291)Ctg>Atg	p.L97M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		97	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.L97M(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGAGGAGCTGTGCGGCCC	0.502000													14	27					4.14922e-12	6.46907e-12	0.028581	1	0
COL3A1	1281	broad.mit.edu	37	2	189868727	189868727	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:189868727G>C	ENST00000304636.3	+	39	2851	c.2681G>C	c.(2680-2682)gGt>gCt	p.G894A	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	894	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G894A(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGACCCCCAGGTCCCAGCGGT	0.453000													7	15					0	0	0.003080	0	0
MUC17	140453	broad.mit.edu	37	7	100676470	100676470	+	Silent	SNP	A	A	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:100676470A>C	ENST00000306151.4	+	3	1837	c.1773A>C	c.(1771-1773)tcA>tcC	p.S591S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	591	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S591S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCACTTCAACAACTCCTG	0.483000													22	183					0	0	0.018920	0	0
SLC34A1	6569	broad.mit.edu	37	5	176820729	176820729	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:176820729C>A	ENST00000324417.5	+	9	1062	c.971C>A	c.(970-972)tCc>tAc	p.S324Y	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	324					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.S324Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGCCAACTCCAGCCAGACC	0.567000													3	22					2.56e-06	3.28758e-06	0.009096	1	0
HEPHL1	341208	broad.mit.edu	37	11	93837765	93837765	+	Silent	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:93837765A>G	ENST00000315765.9	+	16	2762	c.2754A>G	c.(2752-2754)agA>agG	p.R918R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	918	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.R922R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGGGAAGAAGAAGTGACGTTG	0.348000													10	86					0	0	0.006214	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163620	32163620	+	RNA	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:32163620C>A	ENST00000564145.1	-	0	65																											ATGAGGCCCCCCACTTCAGGG	0.597000													6	9					2.0095e-06	2.60115e-06	0.029380	1	0
ATRX	546	broad.mit.edu	37	X	76920220	76920220	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:76920220G>T	ENST00000373344.5	-	11	4071	c.3857C>A	c.(3856-3858)tCt>tAt	p.S1286Y	ATRX_ENST00000395603.3_Missense_Mutation_p.S1248Y|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1286				S -> P (in Ref. 4; BAD92165).	DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.S1286Y(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATCCTCATCAGAGGAAAGATT	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						18	84					9.16793e-09	1.27827e-08	0.033300	1	0
CDK13	8621	broad.mit.edu	37	7	40127867	40127867	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:40127867A>G	ENST00000181839.4	+	12	3777	c.3172A>G	c.(3172-3174)Aca>Gca	p.T1058A	CDK13_ENST00000340829.5_Missense_Mutation_p.T1058A	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1058					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.T1058A(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CAGAACCAACACACCCCAGGG	0.502000													5	54					0	0	0.003080	0	0
FAM45B	55855	broad.mit.edu	37	X	129629173	129629173	+	RNA	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:129629173G>T	ENST00000458525.1	-	0	1022				FAM45B_ENST00000592932.1_RNA														p.G14V(1)									CTGATGCTTGGAGTCGGGCTG	0.542000													18	19					3.52763e-06	4.5065e-06	0.033300	1	0
CCDC171	203238	broad.mit.edu	37	9	15784564	15784564	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr9:15784564C>T	ENST00000380701.3	+	21	3467	c.3139C>T	c.(3139-3141)Ctt>Ttt	p.L1047F	CCDC171_ENST00000297641.3_Missense_Mutation_p.L1047F	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	1047								p.L1047F(1)|p.L314F(1)									TAATGCATTACTTCGGGAAGA	0.383000													18	28					0	0	0.006122	0	0
POLR1B	84172	broad.mit.edu	37	2	113316941	113316941	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:113316941C>T	ENST00000263331.5	+	9	1982	c.1402C>T	c.(1402-1404)Cat>Tat	p.H468Y	POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.H506Y|POLR1B_ENST00000417433.2_Missense_Mutation_p.H412Y|POLR1B_ENST00000537335.1_Missense_Mutation_p.H257Y|POLR1B_ENST00000498054.1_3'UTR	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	468					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.H468N(1)|p.H468Y(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CTACCTCTCCCATTTCCGCTG	0.502000													67	183					0	0	0.014410	0	0
ECD	11319	broad.mit.edu	37	10	74899485	74899485	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:74899485T>A	ENST00000372979.4	-	10	1344	c.1138A>T	c.(1138-1140)Atg>Ttg	p.M380L	ECD_ENST00000454759.1_Missense_Mutation_p.M337L|ECD_ENST00000430082.1_Missense_Mutation_p.M413L	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	380					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	p.M380L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					CCAGGGCTCATAGCAAGAGAA	0.323000													75	167					0	0	0.014410	0	0
BTK	695	broad.mit.edu	37	X	100617635	100617635	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:100617635C>G	ENST00000308731.7	-	6	597	c.434G>C	c.(433-435)tGc>tCc	p.C145S	BTK_ENST00000372880.1_Missense_Mutation_p.C145S	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	145					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.C145S(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GATCCAGAAGCAAGGGTGATA	0.458000									Agammaglobulinemia, X-linked				23	126					0	0	0.027356	0	0
CAND1	55832	broad.mit.edu	37	12	67691560	67691560	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:67691560G>T	ENST00000545606.1	+	6	1218	c.781G>T	c.(781-783)Gta>Tta	p.V261L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	261					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	p.V261L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCCTTTGGTGGTAAAATTTTG	0.264000													6	42					5.18039e-06	6.58341e-06	0.003080	1	0
ZNF645	158506	broad.mit.edu	37	X	22292161	22292161	+	Silent	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:22292161T>A	ENST00000323684.1	+	1	1097	c.1053T>A	c.(1051-1053)tcT>tcA	p.S351S		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	351						intracellular	zinc ion binding	p.S351S(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						GTAATCCATCTGCAAGTGAAT	0.408000													26	63					0	0	0.024334	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265804	22265804	+	RNA	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr14:22265804C>G	ENST00000390430.2	+	0	219																											ATAACCACCACGTAATTCTCT	0.443000													17	110					0	0	0.007413	0	0
COPS2	9318	broad.mit.edu	37	15	49426281	49426281	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:49426281C>G	ENST00000388901.5	-	8	813	c.740G>C	c.(739-741)aGg>aCg	p.R247T	COPS2_ENST00000299259.6_Missense_Mutation_p.R254T|COPS2_ENST00000542928.1_Missense_Mutation_p.R183T	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	247					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	p.R247T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TTCACCTTCCCTCAAGTGCAT	0.358000													12	47					0	0	0.016723	0	0
NBR2	10230	broad.mit.edu	37	17	41297023	41297023	+	RNA	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:41297023C>T	ENST00000460115.1	+	0	1237					NR_003108.1																						TGGAAGAGCCCAAGAGGAGAT	0.562000													2	6					0	0	0.004672	0	0
C10orf68	79741	broad.mit.edu	37	10	33135305	33135305	+	Splice_Site	SNP	G	G	T	rs144109242		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:33135305G>T	ENST00000375030.2	+	18	1830	c.1210_splice	c.e18-1	p.E404_splice	C10orf68_ENST00000375025.4_Splice_Site_p.E509_splice|C10orf68_ENST00000375028.3_Splice_Site_p.E449_splice			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	445								p.E445D(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ATTCTATAGAGACTGATAAAG	0.284000													7	45					8.12818e-05	9.58105e-05	0.029380	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209165672	209165672	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:209165672G>C	ENST00000264380.4	+	9	1220	c.1062G>C	c.(1060-1062)caG>caC	p.Q354H	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.Q257H|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.Q354H|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.Q268H	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	354					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.Q354H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACAGTGTGCAGTTAAAAGACC	0.403000													11	91					0	0	0.020292	0	0
NUP107	57122	broad.mit.edu	37	12	69084442	69084442	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:69084442G>T	ENST00000229179.4	+	4	551	c.219G>T	c.(217-219)caG>caT	p.Q73H	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_Missense_Mutation_p.Q44H	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	73					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.Q73H(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TACTAAGGCAGCCAGATATTT	0.423000													19	48					2.39556e-15	4.00355e-15	0.016522	1	0
OR4A47	403253	broad.mit.edu	37	11	48511031	48511031	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:48511031A>T	ENST00000446524.1	+	1	763	c.687A>T	c.(685-687)aaA>aaT	p.K229N		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K229N(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTAGTCAGAAAGGGAGGCAAA	0.443000													43	94					0	0	0.030466	0	0
SLC6A16	28968	broad.mit.edu	37	19	49797775	49797775	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:49797775C>A	ENST00000454748.3	-	8	1466	c.1265G>T	c.(1264-1266)gGg>gTg	p.G422V	SLC6A16_ENST00000335875.4_Missense_Mutation_p.G422V			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	422						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.G422V(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGGCAGTTTCCCTAGGTTTAT	0.488000													35	63					2.95478e-19	5.30122e-19	0.033182	1	0
TMEM67	91147	broad.mit.edu	37	8	94808196	94808196	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:94808196G>C	ENST00000453321.3	+	18	1899	c.1841G>C	c.(1840-1842)gGa>gCa	p.G614A	TMEM67_ENST00000409623.3_Missense_Mutation_p.G533A	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	614					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	p.G614A(1)|p.G604A(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ACTTATGTTGGATGTGCCTTT	0.328000													26	154					0	0	0.037714	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753949	140753949	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:140753949C>T	ENST00000517434.1	+	1	299	c.299C>T	c.(298-300)cCg>cTg	p.P100L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.P100Q(1)|p.P100L(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGAGCCCGCGGTGTCTG	0.512000													14	46					0	0	0.016723	0	0
ESYT2	57488	broad.mit.edu	37	7	158534254	158534254	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:158534254C>A	ENST00000251527.5	-	17	2274	c.2209G>T	c.(2209-2211)Gcc>Tcc	p.A737S	ESYT2_ENST00000435514.2_Missense_Mutation_p.A172S	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	765	Poly-Ser.					integral to membrane|plasma membrane		p.A737S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TCCTGGGTGGCGATGGGCAGC	0.637000													5	39					0.00116845	0.00131081	0.021553	1	0
FAM122C	159091	broad.mit.edu	37	X	133988158	133988158	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:133988158G>T	ENST00000445123.1	+	12	1765	c.469G>T	c.(469-471)Gct>Tct	p.A157S	FAM122C_ENST00000370784.4_Missense_Mutation_p.M160I|FAM122C_ENST00000370785.3_3'UTR			Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	0								p.M160I(1)		endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					CGACAGCAATGCTGGATCTTC	0.418000													19	92					1.33834e-09	1.93227e-09	0.007413	1	0
HIF3A	64344	broad.mit.edu	37	19	46825041	46825041	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:46825041G>T	ENST00000339613.2	+	10	1240	c.985G>T	c.(985-987)Ggc>Tgc	p.G329C	HIF3A_ENST00000600383.1_Missense_Mutation_p.G316C|HIF3A_ENST00000472815.1_Missense_Mutation_p.G316C|HIF3A_ENST00000300862.3_Missense_Mutation_p.G383C|HIF3A_ENST00000377670.4_Missense_Mutation_p.G385C|HIF3A_ENST00000420102.2_Missense_Mutation_p.G334C|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.G316C			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.G383C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGACACCCCTGGCCCCCGGAT	0.672000													25	68					2.41591e-17	4.18073e-17	0.024334	1	0
AIFM1	9131	broad.mit.edu	37	X	129290567	129290567	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:129290567G>T	ENST00000287295.3	-	2	347	c.117C>A	c.(115-117)ttC>ttA	p.F39L	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000319908.3_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	39					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.F39L(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						GCCATCGCTGGAACAAGTTGC	0.358000													35	200					1.04594e-18	1.86966e-18	0.025465	1	0
LYPD6	130574	broad.mit.edu	37	2	150327362	150327362	+	Nonstop_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:150327362T>C	ENST00000334166.4	+	5	771	c.514T>C	c.(514-516)Tag>Cag	p.*172Q	LYPD6_ENST00000409381.1_Nonstop_Mutation_p.*172Q	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	0						extracellular region		p.*172Q(1)		large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		GCTCATGTTATAGTGGCTCAG	0.488000													26	71					0	0	0.030593	0	0
CACNA1E	777	broad.mit.edu	37	1	181725204	181725204	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:181725204G>A	ENST00000526775.1	+	28	4210	c.4045G>A	c.(4045-4047)Gtc>Atc	p.V1349I	CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1368I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V975I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1349I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1300I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1319I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1368I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1368					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V1368I(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTCTTCACCGTCTCCACAGG	0.517000													8	25					0	0	0.004482	0	0
TSC22D3	1831	broad.mit.edu	37	X	107018416	107018416	+	Silent	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:107018416C>A	ENST00000372383.4	-	1	601	c.234G>T	c.(232-234)ctG>ctT	p.L78L	TSC22D3_ENST00000315660.4_Silent_p.L78L|TSC22D3_ENST00000372384.2_Silent_p.L78L|TSC22D3_ENST00000514426.1_Silent_p.L10L|TSC22D3_ENST00000506081.1_Silent_p.L78L	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	0	Leucine-zipper.						sequence-specific DNA binding transcription factor activity	p.L78L(1)		breast(1)|large_intestine(2)|lung(3)	6						AGGGGTCCCGCAGCACCGGCT	0.567000													11	53					4.3838e-07	5.87718e-07	0.016723	1	0
GHITM	27069	broad.mit.edu	37	10	85904649	85904649	+	Silent	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:85904649C>G	ENST00000372134.3	+	5	553	c.360C>G	c.(358-360)gtC>gtG	p.V120V		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	120					apoptosis	integral to membrane|mitochondrial inner membrane		p.V120V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CTCAGTATGTCAAGGATAGAA	0.408000													9	86					0	0	0.006214	0	0
KRT81	3887	broad.mit.edu	37	12	52685241	52685241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:52685241G>T	ENST00000327741.5	-	1	77	c.9C>A	c.(7-9)tgC>tgA	p.C3*	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	3	Head.					keratin filament	protein binding|structural molecule activity	p.C3*(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCCTGATCCGCAGGTCATGA	0.657000													5	8					2.0095e-06	2.60115e-06	0.029380	1	0
JARID2	3720	broad.mit.edu	37	6	15496943	15496943	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:15496943G>A	ENST00000341776.2	+	7	1731	c.1487G>A	c.(1486-1488)aGg>aAg	p.R496K	JARID2_ENST00000541660.1_Missense_Mutation_p.R458K|JARID2_ENST00000397311.3_Missense_Mutation_p.R324K	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	496					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	p.R496K(1)		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)				AGTCTGGAGAGGAATCGGCCG	0.657000													3	29					0	0	0.009096	0	0
YTHDC2	64848	broad.mit.edu	37	5	112927872	112927872	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:112927872G>T	ENST00000161863.4	+	28	4422	c.4209G>T	c.(4207-4209)ggG>ggT	p.G1403G		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1403	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.G1403G(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GCAGGGATGGGCAGGTATACA	0.353000													13	11					2.23348e-06	2.88344e-06	0.028581	1	0
CHDC2	286464	broad.mit.edu	37	X	36122645	36122645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:36122645C>A	ENST00000378660.1	+	8	1070	c.882C>A	c.(880-882)taC>taA	p.Y294*	CHDC2_ENST00000313548.4_Nonsense_Mutation_p.Y294*					calponin homology domain containing 2									p.Y294*(1)									TAGTGCCATACTGCAGCAATA	0.343000													34	92					1.60099e-16	2.71278e-16	0.021022	1	0
RGS1	5996	broad.mit.edu	37	1	192545461	192545461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:192545461G>T	ENST00000367459.3	+	2	250	c.184G>T	c.(184-186)Gaa>Taa	p.E62*	RGS1_ENST00000469578.2_Nonsense_Mutation_p.E62*	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	62					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.E49*(1)|p.E62*(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				CCCACATCTGGAATCTGGAAT	0.318000													27	57					3.1745e-13	5.0626e-13	0.037714	1	0
ZBTB18	10472	broad.mit.edu	37	1	244218618	244218618	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:244218618G>A	ENST00000358704.4	+	2	1691	c.1542G>A	c.(1540-1542)ttG>ttA	p.L514L		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18									p.L505L(1)									CACTGAGCTTGCCTACTGTCA	0.388000													21	87					0	0	0.021523	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211243	107211243	+	RNA	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr14:107211243C>A	ENST00000390636.2	-	0	126																											CACTGGACACCTGCAAACACA	0.567000													10	35					2.52707e-12	3.9653e-12	0.006214	1	0
PMFBP1	83449	broad.mit.edu	37	16	72164249	72164249	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:72164249C>A	ENST00000537465.1	-	12	1818	c.1660G>T	c.(1660-1662)Gtg>Ttg	p.V554L	PMFBP1_ENST00000237353.10_Missense_Mutation_p.V549L|PMFBP1_ENST00000355636.6_Missense_Mutation_p.V404L			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	554								p.V549L(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGCTCCTCCACCCGTTTTCTA	0.493000													6	23					0.0215528	0.0226676	0.021553	1	0
FABP9	646480	broad.mit.edu	37	8	82370629	82370629	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:82370629C>T	ENST00000379071.2	-	4	443	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	130							lipid binding|transporter activity	p.E130K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			CACACCTTTTCGTAGATTCTG	0.398000													10	79					0	0	0.016723	0	0
APEX2	27301	broad.mit.edu	37	X	55033653	55033653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:55033653G>T	ENST00000374987.3	+	6	1408	c.1342G>T	c.(1342-1344)Gag>Tag	p.E448*		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	448					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	p.E448*(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AGCCAAAGATGAGAAGGAGTT	0.587000								Other BER factors					7	33					0.00307968	0.00339251	0.003080	1	0
BCAS3	54828	broad.mit.edu	37	17	58946045	58946045	+	Splice_Site	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:58946045G>T	ENST00000589222.1	+	8	652		c.e8+1		BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus		p.?(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GCAATAAACGGTAAGGATTTT	0.373000													10	37					2.17888e-05	2.67159e-05	0.006214	1	0
NXF2	56001	broad.mit.edu	37	X	101576802	101576802	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:101576802C>A	ENST00000395088.2	+	27	3170	c.1298C>A	c.(1297-1299)gCc>gAc	p.A433D	NXF2_ENST00000330252.5_Missense_Mutation_p.A433D|NXF2_ENST00000472029.1_3'UTR|NXF2_ENST00000372757.1_Missense_Mutation_p.A433D|NXF2_ENST00000372758.1_Missense_Mutation_p.A433D|NXF2_ENST00000372763.1_Missense_Mutation_p.A345D			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	433	NTF2.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding	p.A433D(1)		endometrium(2)|lung(2)	4						AAGGACTCAGCCCCGTGAGTA	0.597000													6	89					0.00448238	0.00490449	0.004482	1	0
ACAN	176	broad.mit.edu	37	15	89392759	89392759	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:89392759C>A	ENST00000439576.2	+	10	2197	c.1823C>A	c.(1822-1824)aCg>aAg	p.T608K	ACAN_ENST00000561243.1_Missense_Mutation_p.T608K|ACAN_ENST00000558207.1_Missense_Mutation_p.T608K|ACAN_ENST00000559004.1_Missense_Mutation_p.T608K|ACAN_ENST00000352105.7_Missense_Mutation_p.T608K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	608					cell adhesion		hyaluronic acid binding|sugar binding	p.T608K(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGCCACCACGGGCCAGCTC	0.652000													4	10					0.00024832	0.00028513	0.009096	1	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744439	31744439	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr21:31744439G>T	ENST00000399889.2	-	1	118	c.93C>A	c.(91-93)ccC>ccA	p.P31P		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	31						intermediate filament		p.P31P(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CCAGATTGCTGGGGTAGGAAA	0.582000													24	49					3.5997e-14	5.95476e-14	0.014323	1	0
ZNF578	147660	broad.mit.edu	37	19	53007907	53007907	+	Splice_Site	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:53007907G>T	ENST00000421239.2	+	5	307		c.e5-1			NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTTCATTTTAGGGACGCTTGA	0.398000													35	122					1.30998e-17	2.27499e-17	0.023175	1	0
CRP	1401	broad.mit.edu	37	1	159683541	159683541	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:159683541C>A	ENST00000255030.5	-	2	552	c.449G>T	c.(448-450)aGc>aTc	p.S150I	CRP_ENST00000343919.2_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368110.1_Intron|CRP_ENST00000368111.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	150	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.S150I(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CAAGATGATGCTTGCTTCTGC	0.552000													80	293					3.05217e-42	5.98176e-42	0.014410	1	0
GPR148	344561	broad.mit.edu	37	2	131486929	131486929	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:131486929C>A	ENST00000309926.4	+	1	287	c.205C>A	c.(205-207)Ctg>Atg	p.L69M		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	69						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L69M(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TGTCAGCCCCCTGCTGCTGGT	0.627000													12	30					3.07112e-06	3.93361e-06	0.010729	1	0
SENP6	26054	broad.mit.edu	37	6	76405596	76405596	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:76405596C>G	ENST00000370014.3	+	17	2771	c.2152C>G	c.(2152-2154)Ctt>Gtt	p.L718V	SENP6_ENST00000541192.1_Missense_Mutation_p.L314V|SENP6_ENST00000447266.2_Missense_Mutation_p.L718V|SENP6_ENST00000370010.2_Missense_Mutation_p.L711V	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	718	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	p.L718V(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CTATAAACGCCTTAATCAGAG	0.318000													15	90					0	0	0.028581	0	0
NFKBID	84807	broad.mit.edu	37	19	36380868	36380868	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:36380868C>A	ENST00000396901.1	-	11	1385	c.812G>T	c.(811-813)gGg>gTg	p.G271V	NFKBID_ENST00000352614.2_Missense_Mutation_p.G423V|NFKBID_ENST00000340950.2_Missense_Mutation_p.G108V|NFKBID_ENST00000606253.1_Missense_Mutation_p.G271V	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	271					inflammatory response	nucleus		p.G271V(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						GGGGTCCGCCCCAGCTGCCAA	0.692000													11	38					0.00010058	0.000118272	0.013537	1	0
ITGAL	3683	broad.mit.edu	37	16	30510692	30510692	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:30510692A>T	ENST00000356798.6	+	17	2207	c.2027A>T	c.(2026-2028)cAg>cTg	p.Q676L	ITGAL_ENST00000358164.5_Missense_Mutation_p.Q593L|ITGAL_ENST00000433423.2_Missense_Mutation_p.Q72L|RP11-297C4.1_ENST00000563751.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	676					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.Q676L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TACACTCTGCAGCTGGATGGC	0.567000													22	75					0	0	0.018920	0	0
IDO2	169355	broad.mit.edu	37	8	39872871	39872871	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:39872871G>T	ENST00000502986.2	+	11	1255	c.1013G>T	c.(1012-1014)gGa>gTa	p.G338V	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.G325V	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	325					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	p.G325V(1)|p.G338V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CTGTCATCTGGACAGGACCAC	0.507000													6	23					0.0215528	0.0226676	0.021553	1	0
GREM2	64388	broad.mit.edu	37	1	240656615	240656615	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:240656615G>T	ENST00000318160.4	-	2	427	c.161C>A	c.(160-162)gCc>gAc	p.A54D		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	54					BMP signaling pathway	extracellular space	cytokine activity	p.A54D(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CTGGCTGGAGGCCAGCACCTC	0.667000													7	33					1.06961e-07	1.4621e-07	0.003080	1	0
BCAS2	10286	broad.mit.edu	37	1	115124154	115124154	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:115124154T>C	ENST00000369541.3	-	1	106	c.59A>G	c.(58-60)gAt>gGt	p.D20G	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	20					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding	p.D20G(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAACCTTGATCAAAATACGG	0.547000													8	19					0	0	0.006214	0	0
GHR	2690	broad.mit.edu	37	5	42718832	42718832	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr5:42718832C>T	ENST00000230882.4	+	10	1413	c.1223C>T	c.(1222-1224)aCc>aTc	p.T408I	GHR_ENST00000357703.3_Missense_Mutation_p.T386I|GHR_ENST00000537449.1_Missense_Mutation_p.T221I|GHR_ENST00000513625.1_3'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	408					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	p.T408I(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CATGAGGGTACCTCAGAGGTT	0.468000													10	64					0	0	0.013537	0	0
SRD5A3	79644	broad.mit.edu	37	4	56212671	56212671	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr4:56212671G>A	ENST00000264228.4	+	1	396	c.168G>A	c.(166-168)aaG>aaA	p.K56K		NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	56					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	p.K56K(1)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GGAAAACCAAGTGTGGGGAGC	0.697000													3	8					0	0	0.004672	0	0
TTC21A	199223	broad.mit.edu	37	3	39174562	39174562	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr3:39174562G>T	ENST00000301819.6	+	20	2783	c.2606G>T	c.(2605-2607)cGg>cTg	p.R869L	TTC21A_ENST00000431162.2_Missense_Mutation_p.R868L|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.R820L	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	868							binding	p.R869L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTCCAGTCTCGGATACTGAAG	0.488000													8	31					0.000274275	0.000313457	0.004482	1	0
OR10C1	442194	broad.mit.edu	37	6	29408195	29408195	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:29408195C>A	ENST00000444197.2	+	1	1113	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L135M(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCACTGCTGCTGAGCCACCG	0.627000													9	48					3.09899e-07	4.17764e-07	0.004482	1	0
PCDH8	5100	broad.mit.edu	37	13	53418802	53418802	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr13:53418802G>T	ENST00000377942.3	-	3	3309	c.3106C>A	c.(3106-3108)Ccc>Acc	p.P1036T	PCDH8_ENST00000338862.4_Missense_Mutation_p.P939T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1036					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.P1036T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCTGGACGGGGAGGGGAGAGC	0.582000													11	77					3.86212e-05	4.65362e-05	0.008291	1	0
ZNF423	23090	broad.mit.edu	37	16	49660112	49660112	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:49660112C>G	ENST00000561648.1	-	5	3599	c.3546G>C	c.(3544-3546)gaG>gaC	p.E1182D	ZNF423_ENST00000262383.2_Missense_Mutation_p.E1182D|ZNF423_ENST00000567169.1_Missense_Mutation_p.E1065D|ZNF423_ENST00000562871.1_Missense_Mutation_p.E1122D|ZNF423_ENST00000563137.2_Missense_Mutation_p.E1122D|ZNF423_ENST00000562520.1_Missense_Mutation_p.E1122D|ZNF423_ENST00000535559.1_Missense_Mutation_p.E1065D	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1182					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E1182D(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGATTTGGATCTCTCTCTCGT	0.443000													38	149					0	0	0.010771	0	0
MKI67	4288	broad.mit.edu	37	10	129906387	129906387	+	Silent	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:129906387T>C	ENST00000368654.3	-	13	4092	c.3717A>G	c.(3715-3717)gaA>gaG	p.E1239E	MKI67_ENST00000368653.3_Silent_p.E879E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1239	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.E1239E(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGCCACTAATTCCTCGGTGT	0.512000													19	53					0	0	0.008871	0	0
TTC18	118491	broad.mit.edu	37	10	75029452	75029452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:75029452C>A	ENST00000310715.3	-	26	3277	c.3157G>T	c.(3157-3159)Gag>Tag	p.E1053*	TTC18_ENST00000340329.3_Nonsense_Mutation_p.E293*|TTC18_ENST00000355577.3_Nonsense_Mutation_p.E522*|TTC18_ENST00000394865.1_Nonsense_Mutation_p.E1023*|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000401621.2_Nonsense_Mutation_p.E1053*|TTC18_ENST00000493787.1_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	1053							binding	p.E1053*(1)		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)					AGAGCATCCTCAGCCTCTGTG	0.423000													6	36					0.00198382	0.00221028	0.029380	1	0
CBFA2T3	863	broad.mit.edu	37	16	88951655	88951655	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:88951655G>T	ENST00000268679.4	-	7	1312	c.916C>A	c.(916-918)Cgc>Agc	p.R306S	RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R220S|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R281S|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R230S|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R220S	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	306	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).		R -> H (in a colorectal cancer sample; somatic mutation).		cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R306S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AGCGGGTCGCGGTCTGACCCG	0.677000			T	RUNX1	AML								6	11					0.00198382	0.00221028	0.029380	1	0
CUBN	8029	broad.mit.edu	37	10	16955844	16955844	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:16955844G>T	ENST00000377833.4	-	48	7564	c.7499C>A	c.(7498-7500)gCc>gAc	p.A2500D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2500	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.A2500D(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGGATGCGTGGCCAGCCTCAG	0.502000													28	66					9.65021e-13	1.52405e-12	0.010818	1	0
KEAP1	9817	broad.mit.edu	37	19	10610099	10610099	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr19:10610099C>G	ENST00000171111.5	-	2	1158	c.611G>C	c.(610-612)cGg>cCg	p.R204P	KEAP1_ENST00000393623.2_Missense_Mutation_p.R204P|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	204	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R204P(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GATGTACTCCCGGGCACGCTG	0.597000													5	3					0	0	0.014758	0	0
MOGAT2	80168	broad.mit.edu	37	11	75438534	75438534	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:75438534C>A	ENST00000526712.1	+	2	852	c.79C>A	c.(79-81)Ccc>Acc	p.P27T	MOGAT2_ENST00000198801.5_Missense_Mutation_p.P109T			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	109					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.P109N(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGGCTTCCACCCCCATGGAGT	0.617000													41	21					1.52319e-26	2.91496e-26	0.033182	1	0
HERC2	8924	broad.mit.edu	37	15	28422209	28422209	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:28422209C>A	ENST00000261609.7	-	61	9427	c.9319G>T	c.(9319-9321)Ggg>Tgg	p.G3107W		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3107					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G3107W(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCGAGCTCCCACAGGCGATA	0.562000													7	36					8.12818e-05	9.58105e-05	0.029380	1	0
OR10S1	219873	broad.mit.edu	37	11	123847594	123847594	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:123847594G>A	ENST00000531945.1	-	1	894	c.805C>T	c.(805-807)Cct>Tct	p.P269S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P269S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ATACAGACAGGTGGCACGTAG	0.612000													9	75					0	0	0.004482	0	0
LAMP2	3920	broad.mit.edu	37	X	119576490	119576490	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:119576490C>G	ENST00000371335.4	-	7	1028	c.892G>C	c.(892-894)Gaa>Caa	p.E298Q	LAMP2_ENST00000200639.4_Missense_Mutation_p.E298Q|LAMP2_ENST00000434600.2_Missense_Mutation_p.E298Q|LAMP2_ENST00000538785.1_Missense_Mutation_p.E187Q|LAMP2_ENST00000540603.1_Missense_Mutation_p.E251Q	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	298	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		p.E298Q(3)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						ATGTTCACTTCCTTCAGATAA	0.373000													52	305					0	0	0.014410	0	0
OR9I1	219954	broad.mit.edu	37	11	57886684	57886684	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:57886684G>T	ENST00000302610.1	-	1	232	c.233C>A	c.(232-234)aCc>aAc	p.T78N	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T78N(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GATCTGAGGGGTGATGACTGA	0.498000													23	17					6.44725e-10	9.47668e-10	0.014323	1	0
CLCA1	1179	broad.mit.edu	37	1	86954799	86954799	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:86954799G>A	ENST00000234701.3	+	9	1654	c.1303G>A	c.(1303-1305)Gtc>Atc	p.V435I	CLCA1_ENST00000394711.1_Missense_Mutation_p.V435I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	435	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.V435I(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CATCCACACAGTCGCTTTGGG	0.502000													8	34					0	0	0.003080	0	0
LPHN2	23266	broad.mit.edu	37	1	82416126	82416126	+	Silent	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:82416126G>A	ENST00000370728.1	+	9	2097	c.1452G>A	c.(1450-1452)agG>agA	p.R484R	LPHN2_ENST00000359929.3_Silent_p.R484R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Silent_p.R484R|LPHN2_ENST00000319517.6_Silent_p.R484R|LPHN2_ENST00000370721.1_Silent_p.R422R|LPHN2_ENST00000370715.1_Silent_p.R484R|LPHN2_ENST00000370723.1_Silent_p.R484R|LPHN2_ENST00000370725.1_Silent_p.R484R|LPHN2_ENST00000370727.1_Silent_p.R484R|LPHN2_ENST00000335786.5_Silent_p.R484R|LPHN2_ENST00000370730.1_Silent_p.R484R|LPHN2_ENST00000394879.1_Silent_p.R484R|LPHN2_ENST00000271029.4_Silent_p.R484R|LPHN2_ENST00000370713.1_Silent_p.R484R			O95490	LPHN2_HUMAN	latrophilin 2	484					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R484R(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGACACAAAGGGGAATGATGG	0.393000													7	50					0	0	0.003080	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21011412	21011412	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:21011412C>G	ENST00000381545.3	+	5	485	c.266C>G	c.(265-267)tCt>tGt	p.S89C	LST3_ENST00000540229.1_Missense_Mutation_p.S89C|LST3_ENST00000381541.3_Missense_Mutation_p.S89C|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S89C|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S89C|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S89C|SLCO1B3_ENST00000545880.1_3'UTR	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	89					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S89C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TACTTTGGATCTAAACTACAC	0.318000													4	44					0	0	0.014758	0	0
FLG	2312	broad.mit.edu	37	1	152282769	152282769	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:152282769G>T	ENST00000368799.1	-	3	4628	c.4593C>A	c.(4591-4593)tcC>tcA	p.S1531S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1531	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H1532N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGCCCATGGGAGGCATCAG	0.557000									Ichthyosis				119	357					1.85467e-57	3.66428e-57	0.014410	1	0
KCNJ2	3759	broad.mit.edu	37	17	68172048	68172048	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:68172048G>A	ENST00000243457.3	+	2	1251	c.868G>A	c.(868-870)Gca>Aca	p.A290T	KCNJ2_ENST00000535240.1_Missense_Mutation_p.A290T	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	290					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.A290T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CATTGACAACGCAGACTTTGA	0.438000													7	69					0	0	0.004482	0	0
KIF21A	55605	broad.mit.edu	37	12	39751210	39751210	+	Silent	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr12:39751210C>T	ENST00000395670.3	-	9	1664	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V	KIF21A_ENST00000541463.2_Silent_p.V415V|KIF21A_ENST00000361418.5_Silent_p.V415V|KIF21A_ENST00000361961.3_Silent_p.V415V|KIF21A_ENST00000544797.2_Silent_p.V415V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	415					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V415V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGATGCTTTCCACACCCTCTT	0.368000													30	55					0	0	0.021022	0	0
BTAF1	9044	broad.mit.edu	37	10	93788545	93788545	+	Splice_Site	SNP	A	A	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr10:93788545A>T	ENST00000265990.6	+	38	5714		c.e38-1		BTAF1_ENST00000544642.1_Splice_Site	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa						negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTTTTCTTAAGGATGGCAAA	0.308000													4	42					0	0	0.009096	0	0
MAP2K1	5604	broad.mit.edu	37	15	66727441	66727441	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:66727441T>C	ENST00000307102.5	+	2	688	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	53			F -> S (in CFC syndrome).		activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F53L(2)|p.F53S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CCTTGAGGCCTTTCTTACCCA	0.547000													46	104					0	0	0.014410	0	0
KCNB2	9312	broad.mit.edu	37	8	73850219	73850219	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr8:73850219G>T	ENST00000523207.1	+	3	3217	c.2629G>T	c.(2629-2631)Gac>Tac	p.D877Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	877					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.D877Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGTCAAAAAGGACAGTAGTCA	0.488000													11	64					5.16669e-11	7.83026e-11	0.010729	1	0
QRICH2	84074	broad.mit.edu	37	17	74289961	74289961	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:74289961G>A	ENST00000262765.5	-	4	528	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	117							protein binding	p.R117W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GATGCAGTCCGATCCGGGCCA	0.557000													9	49					0	0	0.004482	0	0
OR2H1	26716	broad.mit.edu	37	6	29430207	29430207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr6:29430207C>T	ENST00000377136.1	+	4	1126	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Nonsense_Mutation_p.Q221*|OR2H1_ENST00000377132.1_Nonsense_Mutation_p.Q221*|OR2H1_ENST00000377133.1_Nonsense_Mutation_p.Q221*|OR2H1_ENST00000396792.2_Nonsense_Mutation_p.Q221*			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q221*(1)		large_intestine(5)|lung(12)	17						AGCCACTGCCCAGGCAGTGCT	0.532000													12	97					0	0	0.016723	0	0
MEI1	150365	broad.mit.edu	37	22	42174740	42174740	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr22:42174740C>G	ENST00000401548.3	+	22	2779	c.2739C>G	c.(2737-2739)agC>agG	p.S913R	MEI1_ENST00000400107.1_Intron|MEI1_ENST00000540880.1_Missense_Mutation_p.P238A|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	913							binding	p.S919R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCTGCTGAGCCTCCTCTCCC	0.577000													3	9					0	0	0.004672	0	0
BEND2	139105	broad.mit.edu	37	X	18183163	18183163	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:18183163G>A	ENST00000380033.4	-	14	2498	c.2366C>T	c.(2365-2367)cCa>cTa	p.P789L		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	789								p.P789L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGGATCTCCTGGCTTTGACTC	0.498000													33	129					0	0	0.019004	0	0
KCNH2	3757	broad.mit.edu	37	7	150649748	150649748	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr7:150649748G>T	ENST00000392968.2	-	4	2154	c.1034C>A	c.(1033-1035)cCt>cAt	p.P345H	KCNH2_ENST00000262186.5_Missense_Mutation_p.P441H|KCNH2_ENST00000430723.3_Missense_Mutation_p.P441H|KCNH2_ENST00000330883.4_Missense_Mutation_p.P101H			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	441					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.P441H(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CTCGGTAGCAGGCGGGCCTTC	0.602000													40	59					1.49673e-21	2.75625e-21	0.025465	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156955931	156955931	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:156955931G>A	ENST00000368194.3	-	2	1106	c.67C>T	c.(67-69)Cca>Tca	p.P23S	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.P23S	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	23					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.P23S(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGCGCTCTGGTGCAGAATCT	0.527000													36	64					0	0	0.025465	0	0
OBSCN	84033	broad.mit.edu	37	1	228412410	228412410	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:228412410G>T	ENST00000570156.2	+	10	3254	c.3180G>T	c.(3178-3180)cgG>cgT	p.R1060R	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.R968R|OBSCN_ENST00000422127.1_Silent_p.R968R|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1060	Ig-like 10.				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	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R968R(4)		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)				GGGGCCAGCGGCTCTCCTTCC	0.612000													10	23					7.48243e-07	9.89546e-07	0.006214	1	0
NR0B1	190	broad.mit.edu	37	X	30326434	30326434	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:30326434G>T	ENST00000378970.4	-	1	1281	c.1047C>A	c.(1045-1047)gcC>gcA	p.A349A	NR0B1_ENST00000453287.1_Silent_p.A349A|NR0B1_ENST00000378963.1_Silent_p.A54A	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	349	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.A349A(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCACCTTCCTGGCCTCCGCCG	0.627000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	14					2.0095e-06	2.60115e-06	0.029380	1	0
WDR49	151790	broad.mit.edu	37	3	167246862	167246862	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr3:167246862C>A	ENST00000308378.3	-	10	1633	c.1328G>T	c.(1327-1329)tGg>tTg	p.W443L	WDR49_ENST00000476376.1_Missense_Mutation_p.W268L|WDR49_ENST00000453925.2_Missense_Mutation_p.W507L|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	443								p.W443L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GATTTTCAACCATCCATCAAG	0.358000													14	32					0.000151284	0.000176619	0.016723	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77356285	77356285	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:77356285C>A	ENST00000282849.5	-	14	2529	c.2111G>T	c.(2110-2112)gGa>gTa	p.G704V		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	704	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G704V(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAGGGAGTTCCATCTTTCAC	0.398000													14	141					0.000219431	0.000254353	0.020292	1	0
ZNF831	128611	broad.mit.edu	37	20	57768085	57768085	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr20:57768085G>C	ENST00000371030.2	+	1	2011	c.2011G>C	c.(2011-2013)Gtc>Ctc	p.V671L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	671						intracellular	nucleic acid binding|zinc ion binding	p.V671L(1)		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)					CTCAGGCACAGTCCCCACCCA	0.622000													6	11					0	0	0.021553	0	0
SWT1	54823	broad.mit.edu	37	1	185191096	185191096	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:185191096T>C	ENST00000367500.4	+	15	2402	c.2237T>C	c.(2236-2238)cTt>cCt	p.L746P	SWT1_ENST00000367501.3_Missense_Mutation_p.L746P	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	746								p.L746P(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGTTCTCATCTTCCCCAACCC	0.363000													32	241					0	0	0.012213	0	0
PXDN	7837	broad.mit.edu	37	2	1653010	1653010	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr2:1653010T>A	ENST00000252804.4	-	17	2592	c.2542A>T	c.(2542-2544)Agc>Tgc	p.S848C		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	848					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.S848C(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CACACGTTGCTGCAGTGCTGT	0.657000													4	6					0	0	0.021553	0	0
NFATC3	4775	broad.mit.edu	37	16	68224795	68224795	+	Silent	SNP	G	G	T			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:68224795G>T	ENST00000349223.5	+	9	2447	c.2223G>T	c.(2221-2223)ctG>ctT	p.L741L	NFATC3_ENST00000346183.3_Silent_p.L741L|NFATC3_ENST00000329524.4_Silent_p.L741L|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Silent_p.L741L	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	741					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.L741L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ACAGTGTACTGTCAGGACAGA	0.473000													21	71					0.000175454	0.000203861	0.010504	1	0
NLRC3	197358	broad.mit.edu	37	16	3614682	3614682	+	RNA	SNP	T	T	G			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr16:3614682T>G	ENST00000301749.7	-	0	661				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	p.R133R(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGCCAGCCTGTGCCAGGGT	0.706000													5	8					0	0	0.014758	0	0
LOC283683	283683	broad.mit.edu	37	15	23108827	23108827	+	RNA	SNP	C	C	T	rs2570838		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr15:23108827C>T	ENST00000557922.1	-	0	302					NR_040057.1																						TCGTCTTCATCTTTTTTCTCT	0.393000													5	40					0	0	0.029380	0	0
FLG	2312	broad.mit.edu	37	1	152275883	152275883	+	Missense_Mutation	SNP	C	C	A	rs140464988		TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr1:152275883C>A	ENST00000368799.1	-	3	11514	c.11479G>T	c.(11479-11481)Ggg>Tgg	p.G3827W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3827	Ser-rich.		G -> W (in dbSNP:rs12728908).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3827W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACGCGACCCTGAGTGCCTG	0.597000									Ichthyosis				33	337					3.61848e-18	6.39789e-18	0.030466	1	0
MANBA	4126	broad.mit.edu	37	4	103644031	103644031	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr4:103644031delC	ENST00000226578.4	-	4	645	c.546delG	c.(544-546)cgfs	p.R182fs	MANBA_ENST00000505239.1_Intron	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	182					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CCATTACCTTCCGAACAAAGT	0.488													14	37	---	---	---	---					
OR13C4	138804	broad.mit.edu	37	9	107288787	107288787	+	Frame_Shift_Del	DEL	T	T	-			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr9:107288787delT	ENST00000277216.3	-	1	703	c.704delA	c.(703-705)ccfs	p.H235fs		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AAATGCCTTGTGTCTTCCTGT	0.423													42	66	---	---	---	---					
CCKBR	887	broad.mit.edu	37	11	6291420	6291420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr11:6291420delC	ENST00000525462.1	+	3	509	c.506delC	c.(505-507)tcfs	p.S169fs	CCKBR_ENST00000532715.1_Frame_Shift_Del_p.S85fs|CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000334619.2_Frame_Shift_Del_p.S169fs			P32239	GASR_HUMAN	cholecystokinin B receptor	139					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CAGACGCGCTCCCACGCGGCT	0.642													11	16	---	---	---	---					
RNF219	79596	broad.mit.edu	37	13	79190706	79190707	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr13:79190706_79190707insA	ENST00000282003.6	-	6	1247_1248	c.1189_1190insT	c.(1189-1191)cctfs	p.P397fs	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	397							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GAGCTGAAGGCAACTAAGGGAC	0.426													22	125	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579481	7579482	+	Frame_Shift_Ins	INS	-	-	C			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr17:7579481_7579482insC	ENST00000420246.2	-	4	337_338	c.205_206insG	c.(205-207)tgcfs	p.C69fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.C69fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C69fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.C69fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C69fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C69fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	69	Interaction with HRMT1L2.|Interaction with WWOX.		A -> D (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> T (in a sporadic cancer; somatic mutation).|A -> V (in a sporadic cancer; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G59fs*23(3)|p.A69G(3)|p.A69fs*54(1)|p.E68fs*76(1)|p.A69fs*79(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.A69V(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(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)		GGGGGGAGCAGCCTCTGGCATT	0.609		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)			102	86	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58889846	58889846	+	RNA	DEL	C	C	-			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chr20:58889846delC	ENST00000432910.1	+	0	332					NR_046099.1																						atcctcccatccatccatcca	0.547													5	1	---	---	---	---					
CYBB	1536	broad.mit.edu	37	X	37664382	37664382	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:37664382delC	ENST00000378588.4	+	10	1342	c.1275delC	c.(1273-1275)tafs	p.Y425fs	CYBB_ENST00000545017.1_Frame_Shift_Del_p.Y393fs|CYBB_ENST00000536160.1_Frame_Shift_Del_p.Y158fs|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	425					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CAGTCTGGTACAAATATTGCA	0.483													13	33	---	---	---	---					
STARD8	9754	broad.mit.edu	37	X	67937113	67937113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-6211-01A-11D-1753-08	TCGA-75-6211-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c9abbe-b112-4019-a6a3-f582df1379ed	766b14bf-ca3c-429d-83f0-b01190caceb3	g.chrX:67937113delG	ENST00000252336.6	+	5	489	c.117delG	c.(115-117)cafs	p.Q39fs	STARD8_ENST00000374597.3_Frame_Shift_Del_p.Q39fs|STARD8_ENST00000374599.3_Frame_Shift_Del_p.Q119fs	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	39					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCTTCCAGCAGGAAAGTAAGT	0.587													7	7	---	---	---	---					
