Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PCNT	5116	broad.mit.edu	37	21	47831454	47831454	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr21:47831454C>G	uc002zji.4	+	27	5574	c.5467C>G	c.(5467-5469)Cgc>Ggc	p.R1823G	PCNT_uc002zjj.3_Missense_Mutation_p.R1705G	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1823					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTGCAGCAGCGCCTCCAGGG	0.697000														23			4		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526497	23526497	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:23526497G>T	uc003jgo.3	+	10	1482	c.1300G>T	c.(1300-1302)Gat>Tat	p.D434Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	434					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTGCCCAGGGGATCAGAATCA	0.453000										HNSCC(3;0.000094)				85			17		8.00594e-06	8.3305e-06	1	1	0
MSLNL	401827	broad.mit.edu	37	16	825590	825590	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr16:825590A>T	uc002cjz.1	-	4	1171	c.1171T>A	c.(1171-1173)Tgg>Agg	p.W391R		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	110					cell adhesion	integral to membrane		p.W391L(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTCAGGCCCCAGTCCCCACCC	0.706000														23			6		0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26107512	26107512	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr1:26107512T>A	uc001bkm.2	+	9	1889	c.1559T>A	c.(1558-1560)aTc>aAc	p.I520N	MAN1C1_uc009vry.1_Missense_Mutation_p.I340N	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	520					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGCTACTACATCCTCCGGCCA	0.612000														81			4		0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75263721	75263721	+	Silent	SNP	G	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr16:75263721G>A	uc002fdv.3	-	6	2447	c.2301C>T	c.(2299-2301)acC>acT	p.T767T	BCAR1_uc002fdt.3_Silent_p.T220T|BCAR1_uc002fdu.3_Silent_p.T557T|BCAR1_uc010vna.2_Silent_p.T765T|BCAR1_uc010cgu.3_Silent_p.T785T|BCAR1_uc010vnb.2_Silent_p.T813T|BCAR1_uc002fdw.3_Silent_p.T767T|BCAR1_uc010vnc.2_Silent_p.T619T|BCAR1_uc010vnd.2_Silent_p.T785T|BCAR1_uc002fdx.3_Silent_p.T785T	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	767	Divergent helix-loop-helix motif.				B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGCCACGGCGGTAAAGAAGG	0.632000														88			4		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380168	78380168	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:78380168C>A	uc001ozl.4	-	31	7685	c.7222G>T	c.(7222-7224)Gat>Tat	p.D2408Y	ODZ4_uc001ozk.4_Missense_Mutation_p.D633Y	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2408					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTGAGTGGATCATAGAGGCCA	0.517000														67			16		1.52009e-12	1.69633e-12	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105412534	105412534	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr14:105412534C>T	uc010axc.1	-	6	9374	c.9254G>A	c.(9253-9255)gGc>gAc	p.G3085D	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.G2985D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3085						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTTGGGGCCCTTGACATC	0.632000														234			6		0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36680565	36680565	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:36680565G>A	uc003jkj.4	+	7	1639	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K	SLC1A3_uc011cox.2_Missense_Mutation_p.R281K|SLC1A3_uc010iuy.3_Missense_Mutation_p.R388K	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	388					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CGCGTCACCAGATTCGTGCTC	0.507000														59			25		0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221057861	221057861	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr1:221057861G>A	uc001hmv.4	+	3	1739	c.1282G>A	c.(1282-1284)Ggc>Agc	p.G428S		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	428	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S427G(1)|p.G431delG(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		tgggagcagcggcggcggcgg	0.642000														22			3		0	0	1	0	0
FAM187B	148109	broad.mit.edu	37	19	35719087	35719087	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr19:35719087C>T	uc002nyk.1	-	0	542	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	166						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CTCAATGTAGCGGTACCCCAG	0.607000														65			4		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380925	78380925	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:78380925C>A	uc001ozl.4	-	31	6928	c.6465G>T	c.(6463-6465)caG>caT	p.Q2155H	ODZ4_uc001ozk.4_Missense_Mutation_p.Q380H	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2155					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGATCTCATACTGCACTTCCT	0.468000														82			14		4.36969e-10	4.67314e-10	1	1	0
NOS1AP	9722	broad.mit.edu	37	1	162325027	162325027	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr1:162325027A>T	uc001gbv.2	+	6	1033	c.646A>T	c.(646-648)Act>Tct	p.T216S	NOS1AP_uc010pkr.1_Missense_Mutation_p.T211S|NOS1AP_uc001gbw.2_Missense_Mutation_p.T211S|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	216					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TGCAGAGGAGACTGACATCGA	0.582000														57			15		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18329228	18329228	+	Silent	SNP	G	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr19:18329228G>A	uc010xqc.2	-	9	1626	c.1146C>T	c.(1144-1146)caC>caT	p.H382H	PDE4C_uc002nik.4_Silent_p.H382H|PDE4C_uc002nil.4_Silent_p.H382H|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Silent_p.H152H|PDE4C_uc010ebk.3_Silent_p.H276H|PDE4C_uc002nii.4_Silent_p.H350H|PDE4C_uc002nif.4_Silent_p.H151H|PDE4C_uc010ebl.3_Silent_p.H96H	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	382					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CCACATTGGCGTGGTAGTGAC	0.617000														153			10		0	0	1	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	C	C			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr7:35930362T>C	uc010kxc.3	+	9	1175	c.951T>C	c.(949-951)taT>taC	p.Y317Y	SEPT7_uc011kat.2_Silent_p.Y317Y|SEPT7_uc011kau.2_Silent_p.Y283Y|SEPT7_uc011kav.2_Silent_p.Y266Y	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000														24			4		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000														40			3		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380288	78380288	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:78380288C>T	uc001ozl.4	-	31	7565	c.7102G>A	c.(7102-7104)Gct>Act	p.A2368T	ODZ4_uc001ozk.4_Missense_Mutation_p.A593T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2368					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CTAAAGACAGCAAGAGGGGTC	0.478000														255			35		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37173934	37173934	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:37173934C>T	uc011cpa.1	-	31	6325	c.6094G>A	c.(6094-6096)Gaa>Aaa	p.E2032K	C5orf42_uc011coy.1_Missense_Mutation_p.E532K|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.E1107K|C5orf42_uc003jkr.1_Missense_Mutation_p.E65K	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2032										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCCGTGAATTCATTTCTCTGG	0.398000														94			11		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265493	39265493	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr13:39265493T>G	uc001uwv.3	+	0	4321	c.4012T>G	c.(4012-4014)Tct>Gct	p.S1338A		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1338					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGAAGACAAATCTTTGGTTTA	0.343000														38			30		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108196953	108196953	+	Splice_Site	SNP	G	C	C			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:108196953G>C	uc001pkb.1	+	47	7360	c.6975_splice	c.e47+1	p.A2325_splice	ATM_uc009yxr.1_Splice_Site_p.A2325_splice|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Splice_Site_p.A977_splice|ATM_uc001pkg.1_Splice_Site_p.A682_splice	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2325	FAT.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTGTGCAGCGGTTTGTTTTTT	0.343000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				15			17		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6592235	6592235	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:6592235C>T	uc001mdw.4	+	41	14057	c.13493C>T	c.(13492-13494)aCg>aTg	p.T4498M	DNHD1_uc001mea.4_Missense_Mutation_p.T767M|DNHD1_uc001meb.3_3'UTR|DNHD1_uc001mec.3_Missense_Mutation_p.T766M|DNHD1_uc010rao.2_Missense_Mutation_p.T756M|DNHD1_uc009yfg.3_Missense_Mutation_p.T123M	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	4498					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTGGTGGGCACGCTACAACGC	0.672000														57			7		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831449	47831449	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr21:47831449A>T	uc002zji.4	+	27	5569	c.5462A>T	c.(5461-5463)cAg>cTg	p.Q1821L	PCNT_uc002zjj.3_Missense_Mutation_p.Q1703L	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1821					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAGGCCCTGCAGCAGCGCCTC	0.692000														23			4		0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025091	130025091	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr7:130025091A>T	uc003vpx.3	+	7	964	c.892A>T	c.(892-894)Aac>Tac	p.N298Y	CPA1_uc003vpw.2_Missense_Mutation_p.N132Y	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	298					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GGACCATGGGAACATCAAGGC	0.527000														101			5		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55594221	55594221	+	Missense_Mutation	SNP	A	G	G	rs121913512		TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr4:55594221A>G	uc010igr.3	+	12	2011	c.1924A>G	c.(1924-1926)Aaa>Gaa	p.K642E	KIT_uc010igs.3_Missense_Mutation_p.K638E|KIT_uc010igt.2_Missense_Mutation_p.K91E	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	642	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.K642E(100)|p.K642Q(2)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTGAACTCAAAGTCCTGAG	0.438000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					137			122		0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28127364	28127364	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr13:28127364T>C	uc001url.4	-	7	2068	c.1759A>G	c.(1759-1761)Atg>Gtg	p.M587V	LNX2_uc001urm.1_Missense_Mutation_p.M587V	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	587							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCAAGCCACATGACCCATGAT	0.483000														58			21		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47563064	47563064	+	Missense_Mutation	SNP	G	A	A	rs142329918		TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr4:47563064G>A	uc003gxk.1	+	13	2804	c.2640G>A	c.(2638-2640)atG>atA	p.M880I	ATP10D_uc003gxl.1_Missense_Mutation_p.M128I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	880					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATCTGCCATGAGGTTGGAGA	0.378000														103			12		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152576787	152576787	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr6:152576787C>T	uc021zhb.1	-	100	19422	c.19199G>A	c.(19198-19200)cGt>cAt	p.R6400H	SYNE1_uc003qos.4_Missense_Mutation_p.R924H|SYNE1_uc003qot.4_Missense_Mutation_p.R6329H|SYNE1_uc003qou.4_Missense_Mutation_p.R6400H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6400					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACAAATAAACGTTCTTCAAC	0.448000										HNSCC(10;0.0054)				38			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82546073	82546073	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr7:82546073C>A	uc003uhx.2	-	6	11518	c.11229G>T	c.(11227-11229)atG>atT	p.M3743I	PCLO_uc003uhv.2_Missense_Mutation_p.M3743I|PCLO_uc010lec.3_Missense_Mutation_p.M708I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3674					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAACTGTGCCCATTGTGCTGA	0.478000														102			5		0.000602214	0.000602214	1	1	0
EHD3	30845	broad.mit.edu	37	2	31489524	31489524	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr2:31489524T>G	uc002rnu.3	+	5	2170	c.1562T>G	c.(1561-1563)cTg>cGg	p.L521R	EHD3_uc010ymt.2_3'UTR	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	521	EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding	p.E520K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCCAACGAGCTGCCTGCCCAC	0.612000														76			24		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121785606	121785606	+	Silent	SNP	G	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:121785606G>A	uc003ksw.1	+	8	1865	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	SNCAIP_uc011cwl.1_Silent_p.E111E|SNCAIP_uc003ksy.1_Silent_p.E187E|SNCAIP_uc003ksx.1_Silent_p.E600E|SNCAIP_uc003ksz.1_Silent_p.E187E|SNCAIP_uc010jcu.2_Silent_p.E149E|SNCAIP_uc011cwm.1_Silent_p.E187E|SNCAIP_uc003kta.1_Silent_p.E185E|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.E247E|SNCAIP_uc010jcx.1_Silent_p.E493E|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.E69E	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	553					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGAAATCAGAGGGCAAGTCAC	0.428000														99			6		0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82991220	82991220	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:82991220C>G	uc001pae.3	-	1	546	c.184G>C	c.(184-186)Gat>Cat	p.D62H	CCDC90B_uc001pac.3_5'UTR|CCDC90B_uc001pad.3_5'UTR|CCDC90B_uc001paf.3_Missense_Mutation_p.D53H	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA.	62						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				GCATGGGTATCAAAAGTTAAT	0.393000														126			55		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939474	47939474	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr4:47939474G>T	uc003gxu.3	-	9	1385	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.A346D	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	346					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GTATTTTCTAGCCAAACGGCC	0.418000														139			8		3.09899e-07	3.26879e-07	1	1	0
MACC1	346389	broad.mit.edu	37	7	20180699	20180699	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr7:20180699A>G	uc003sus.4	-	6	2738	c.2429T>C	c.(2428-2430)cTt>cCt	p.L810P	MACC1_uc010kug.3_Missense_Mutation_p.L810P	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	810					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGCTGACTGAAGGTCTTGTAA	0.353000														122			8		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150901209	150901209	+	Missense_Mutation	SNP	G	A	A	rs142359154		TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:150901209G>A	uc003lue.4	-	17	10958	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W	FAT2_uc003lud.4_Missense_Mutation_p.R342W	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3649					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCAGGTTCCGCCAGTGGTCA	0.607000														30			20		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73676231	73676231	+	Silent	SNP	G	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr2:73676231G>A	uc002sje.1	+	7	2685	c.2574G>A	c.(2572-2574)gcG>gcA	p.A858A	ALMS1_uc002sjf.1_Silent_p.A816A|ALMS1_uc002sjg.3_Silent_p.A246A|ALMS1_uc002sjh.1_Silent_p.A246A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	858	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.A858A(2)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTCCTCTGCGTCCTCTTCAC	0.488000														58			4		0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34985290	34985290	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr10:34985290C>T	uc010qej.2	-	1	508	c.178G>A	c.(178-180)Gac>Aac	p.D60N	PARD3_uc010qep.2_Missense_Mutation_p.D60N|PARD3_uc010qeq.2_Missense_Mutation_p.D60N|PARD3_uc010qek.2_Missense_Mutation_p.D60N|PARD3_uc010qel.2_Missense_Mutation_p.D60N|PARD3_uc010qem.2_Missense_Mutation_p.D60N|PARD3_uc010qen.2_Missense_Mutation_p.D60N|PARD3_uc010qeo.2_Missense_Mutation_p.D60N|PARD3_uc001ixr.2_Missense_Mutation_p.D60N|PARD3_uc001ixq.2_Missense_Mutation_p.D60N|PARD3_uc001ixp.2_Missense_Mutation_p.D60N|PARD3_uc001ixu.2_Missense_Mutation_p.D60N	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	60					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCATCAAGGTCTAGTATTCCT	0.408000														164			5		0	0	1	0	0
TIGD7	91151	broad.mit.edu	37	16	3349757	3349757	+	Silent	SNP	G	A	A	rs148242088		TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr16:3349757G>A	uc021tcc.1	-	0	858	c.858C>T	c.(856-858)gaC>gaT	p.D286D	ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Silent_p.D286D	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA.	286	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TGACGTCCTCGTCATGAAATC	0.413000														43			19		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414449	121414449	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr3:121414449C>A	uc010hrc.3	-	12	5047	c.4921G>T	c.(4921-4923)Gtg>Ttg	p.V1641L	GOLGB1_uc003eei.4_Missense_Mutation_p.V1636L|GOLGB1_uc003eej.4_Missense_Mutation_p.V1602L|GOLGB1_uc021xcy.1_Missense_Mutation_p.V1561L|GOLGB1_uc011bjm.1_Missense_Mutation_p.V1522L|GOLGB1_uc010hrd.1_Missense_Mutation_p.V1600L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1636					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACAGCTTCCACCACATGCTGA	0.428000														80			10		2.17888e-05	2.23698e-05	1	1	0
CCDC90B	60492	broad.mit.edu	37	11	82991241	82991241	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:82991241C>T	uc001pae.3	-	1	525	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	CCDC90B_uc001pac.3_5'UTR|CCDC90B_uc001pad.3_5'UTR|CCDC90B_uc001paf.3_Missense_Mutation_p.E46K	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA.	55						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TTCCTTTGTTCTAAAGGAGTT	0.378000														130			62		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34800252	34800252	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr20:34800252C>T	uc010gfq.3	+	5	2798	c.2435C>T	c.(2434-2436)cCg>cTg	p.P812L	EPB41L1_uc002xeu.3_Missense_Mutation_p.P639L|EPB41L1_uc010zvo.1_Missense_Mutation_p.P713L|EPB41L1_uc002xev.3_Missense_Mutation_p.P713L|EPB41L1_uc002xew.3_Missense_Mutation_p.P604L|EPB41L1_uc002xex.3_Missense_Mutation_p.P533L|EPB41L1_uc002xey.3_Missense_Mutation_p.P491L|EPB41L1_uc002xez.3_Missense_Mutation_p.P639L|EPB41L1_uc002xfb.3_Missense_Mutation_p.P713L	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	713	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAGATTGAGCCGGAGGCCGTA	0.493000														73			8		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9458656	9458656	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr2:9458656C>G	uc002qzh.2	+	3	689	c.349C>G	c.(349-351)Cag>Gag	p.Q117E	ASAP2_uc002qzi.2_Missense_Mutation_p.Q117E	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	117					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TTTTTAGATTCAGAATATGAA	0.393000														15			3		0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82991211	82991211	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:82991211C>T	uc001pae.3	-	1	555	c.193G>A	c.(193-195)Gca>Aca	p.A65T	CCDC90B_uc001pac.3_5'UTR|CCDC90B_uc001pad.3_5'UTR|CCDC90B_uc001paf.3_Missense_Mutation_p.A56T	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA.	65						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TGAACCAATGCATGGGTATCA	0.388000														124			62		0	0	1	0	0
MARCH8	220972	broad.mit.edu	37	10	45954714	45954714	+	Splice_Site	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr10:45954714C>T	uc001jci.1	-	6	663	c.424_splice	c.e6-1	p.W142_splice	MARCH8_uc001jch.2_Splice_Site_p.W424_splice|MARCH8_uc001jcj.1_Splice_Site_p.W142_splice|MARCH8_uc001jck.1_Splice_Site_p.W142_splice|DL492557_uc001jcf.3_5'Flank|MARCH8_uc001jcg.1_Splice_Site_p.W11_splice	NM_001002266	NP_659458	Q5T0T0	MARH8_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 8 (MARCH8), transcript variant 7, mRNA.	142						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CAACTTCTCCCACTAGAAAGA	0.532000														52			6		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380919	78380919	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:78380919C>A	uc001ozl.4	-	31	6934	c.6471G>T	c.(6469-6471)gaG>gaT	p.E2157D	ODZ4_uc001ozk.4_Missense_Mutation_p.E382D	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2157					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGCGGAAGATCTCATACTGCA	0.478000														84			16		6.72482e-11	7.29312e-11	1	1	0
LOC338651	338651	broad.mit.edu	37	11	1619504	1619504	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:1619504G>T	uc009ycx.1	+	1	1355	c.604G>T	c.(604-606)Gca>Tca	p.A202S	MOB2_uc001ltq.2_Intron|LOC338651_uc001ltt.1_Non-coding_Transcript|KRTAP5-2_uc001ltv.3_5'UTR					Homo sapiens uncharacterized LOC338651 (LOC338651), non-coding RNA.																		TGAGGGTGGAGCAGGTAGAGG	0.622000														157			8		5.16669e-11	5.68335e-11	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145302737	145302737	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr1:145302737G>A	uc021oul.1	+	7	1210	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.R392H|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Missense_Mutation_p.R121H|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	392										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGCCTCCCGCTCATTGAAT	0.557000														102			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:140181071G>C	uc003lhf.2	+	0	289	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G97R	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	112	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G97R(2)|p.G97W(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTGTGCGGGCGGAGCGC	0.557000														247			5		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465813	10465813	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr8:10465813T>A	uc003wtc.3	-	3	6024	c.5795A>T	c.(5794-5796)gAg>gTg	p.E1932V		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1932					intracellular signal transduction			p.E1932*(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)		TGACTCTGGCTCGTCCTCCCC	0.607000														185			18		0	0	1	0	0
ATP1B3	483	broad.mit.edu	37	3	141644533	141644533	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr3:141644533C>T	uc003eug.1	+	6	1004	c.830C>T	c.(829-831)gCa>gTa	p.A277V	ATP1B3_uc011bne.1_Non-coding_Transcript	NM_001679	NP_001670	P54709	AT1B3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 3 polypeptide (ATP1B3), mRNA.	277					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						AAAATCACAGCACGTGCATAG	0.393000														90			27		0	0	1	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077303	45077303	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr3:45077303G>T	uc003cok.4	+	2	592	c.496G>T	c.(496-498)Gat>Tat	p.D166Y		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	166	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCGCAACCCGATGGCGGCAA	0.657000														53			23		1.1804e-14	1.37713e-14	1	1	0
TIMD4	91937	broad.mit.edu	37	5	156349163	156349163	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:156349163G>A	uc003lwh.2	-	6	1016	c.959C>T	c.(958-960)gCc>gTc	p.A320V	TIMD4_uc010jii.2_Missense_Mutation_p.A292V|TIMD4_uc003lwg.2_Missense_Mutation_p.A22V	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	320						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGGAGGGGGCGATGATCAT	0.527000														32			3		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393443	139393443	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr9:139393443A>G	uc004chz.3	-	32	6088	c.6088T>C	c.(6088-6090)Tcc>Ccc	p.S2030P		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2030					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCAGGGCGGACTTGCCTGCG	0.622000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				83			12		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78372521	78372521	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:78372521C>T	uc001ozl.4	-	32	7987	c.7524G>A	c.(7522-7524)atG>atA	p.M2508I	ODZ4_uc001ozk.4_Missense_Mutation_p.M733I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2508					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CCTGCGTTTTCATCTGTGTGT	0.527000														56			7		0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9236941	9236941	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr19:9236941G>T	uc010xkl.2	-	0	686	c.686C>A	c.(685-687)cCa>cAa	p.P229Q		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ACCAGCTGATGGAATTTTCAT	0.423000														158			14		1.52009e-12	1.69633e-12	1	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	C	C	rs148060711	by1000genomes	TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr21:14414844T>C	uc002yiy.3	+	1		c.281T>C			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		ACTGGGCCTGTGCCAATGGCC	0.433000														35			3		0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56322100	56322100	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr4:56322100C>T	uc003haz.1	-	13	1872	c.946G>A	c.(946-948)Gat>Aat	p.D316N	CLOCK_uc003hba.1_Missense_Mutation_p.D316N	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	316	PAS 2.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TCTAGGTCATCCACATGATAG	0.348000														238			6		0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49494741	49494741	+	Splice_Site	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr19:49494741C>T	uc002plp.3	-	2	360	c.119_splice	c.e2-1	p.V40_splice	GYS1_uc010emm.3_Splice_Site_p.V40_splice|GYS1_uc010xzz.2_Intron|GYS1_uc010yaa.1_Intron|RUVBL2_uc010yab.2_5'Flank|RUVBL2_uc002plr.1_5'Flank|RUVBL2_uc002pls.1_5'Flank|RUVBL2_uc010emn.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	40					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		ATGCCACCCACTGTGGGCCCA	0.677000														193			10		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672004	186672004	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr2:186672004G>A	uc002upl.3	+	16	18238	c.18238G>A	c.(18238-18240)Gcc>Acc	p.A6080T	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.									p.A689T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CCAAAAGTTGGCCCAAACAGC	0.353000														72			13		0	0	1	0	0
GZMH	2999	broad.mit.edu	37	14	25077538	25077538	+	Silent	SNP	G	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr14:25077538G>T	uc001wpr.1	-	1	181	c.136C>A	c.(136-138)Cgg>Agg	p.R46R	GZMH_uc010aly.1_Silent_p.R46R|GZMH_uc010alz.1_Silent_p.R46R	NM_033423	NP_219491	P20718	GRAH_HUMAN	Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA.	46	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CACCTCTTCCGACTCTTCTCT	0.562000														189			5		0.000157383	0.000159454	1	1	0
BIRC5	332	broad.mit.edu	37	17	76212766	76212766	+	Silent	SNP	G	C	C			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr17:76212766G>C	uc002jvg.3	+	2	364	c.243G>C	c.(241-243)tcG>tcC	p.S81S	BIRC5_uc002jve.1_Intron|BIRC5_uc002jvd.1_Silent_p.S104S|BIRC5_uc010dhl.1_Silent_p.S129S|BIRC5_uc010dhk.1_Non-coding_Transcript|BIRC5_uc002jvf.3_Silent_p.S104S|BIRC5_uc002jvh.3_Intron|BIRC5_uc002jvi.3_Non-coding_Transcript	NM_001168	NP_001159	O15392	BIRC5_HUMAN	Homo sapiens baculoviral IAP repeat containing 5 (BIRC5), transcript variant 1, mRNA.	81					G2/M transition of mitotic cell cycle|anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	Ran GTPase binding|caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			AAAAGCATTCGTCCGGTTGCG	0.448000														76			12		0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90419893	90419893	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr7:90419893A>G	uc003uky.2	+	4	692	c.470A>G	c.(469-471)aAt>aGt	p.N157S	CDK14_uc003ukt.1_Missense_Mutation_p.N111S|CDK14_uc003ukv.1_Missense_Mutation_p.N111S|CDK14_uc003uku.1_Missense_Mutation_p.N111S|CDK14_uc003ukx.1_Non-coding_Transcript|CDK14_uc003ukz.1_Missense_Mutation_p.N139S|CDK14_uc010les.1_Missense_Mutation_p.N111S|CDK14_uc011khl.1_Missense_Mutation_p.N28S	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	157	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CACAGGGTAAATGGGAAGTTG	0.363000														46			12		0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74872667	74872667	+	Silent	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:74872667C>T	uc003kdw.3	+	5	699	c.603C>T	c.(601-603)taC>taT	p.Y201Y	POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc003kea.3_Silent_p.Y201Y|POLK_uc003keb.3_Silent_p.Y201Y|POLK_uc010izq.3_Silent_p.Y201Y|POLK_uc003kec.3_Silent_p.Y111Y|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_Silent_p.Y111Y|POLK_uc003kee.3_Silent_p.Y201Y	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	201	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		ATGAAGCCTACTTGAATATAA	0.338000								DNA polymerases (catalytic subunits)						22			13		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40321635	40321635	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr17:40321635G>A	uc002hzb.2	-	8	1783	c.1450C>T	c.(1450-1452)Cgc>Tgc	p.R484C		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	484					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGCGAGCGGCGCGAGTACATG	0.647000														63			7		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156635998	156635998	+	Silent	SNP	G	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:156635998G>A	uc003lwo.1	+	1	319	c.237G>A	c.(235-237)ccG>ccA	p.P79P		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	79	PH.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P79P(2)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATAAATACCCGTTTCAGGTAA	0.488000			T	SYK	peripheral T-cell lymphoma									22			8		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113943774	113943774	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr2:113943774G>C	uc002tjc.3	+	4	1753	c.1570G>C	c.(1570-1572)Gcc>Ccc	p.A524P	PSD4_uc002tjd.3_Missense_Mutation_p.A145P|PSD4_uc002tje.3_Missense_Mutation_p.A495P|PSD4_uc002tjf.3_Missense_Mutation_p.A145P	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	524					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAAGGAACAGCCAGGCCTGC	0.517000														18			17		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475156	32475156	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr2:32475156C>T	uc002roi.3	-	3	2038	c.1777G>A	c.(1777-1779)Gat>Aat	p.D593N	NLRC4_uc021vfq.1_Missense_Mutation_p.D593N|NLRC4_uc002roj.2_Missense_Mutation_p.D593N|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	593					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.D593N(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AATAAGTAATCGGGGATGTTC	0.398000														49			30		0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82989807	82989807	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:82989807C>G	uc001pae.3	-	2	648	c.286G>C	c.(286-288)Gat>Cat	p.D96H	CCDC90B_uc001pac.3_5'UTR|CCDC90B_uc001pad.3_5'UTR|CCDC90B_uc001paf.3_Missense_Mutation_p.D87H	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA.	96						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TAGATAGTATCCAGGCTGACA	0.328000														107			66		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110384573	110384573	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr4:110384573C>A	uc003hzk.3	+	1	705	c.650C>A	c.(649-651)cCg>cAg	p.P217Q	SEC24B_uc003hzl.3_Missense_Mutation_p.P217Q|SEC24B_uc011cfp.2_Missense_Mutation_p.P248Q|SEC24B_uc011cfq.2_Missense_Mutation_p.P217Q|SEC24B_uc011cfr.2_Missense_Mutation_p.P217Q	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	217					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGAATGCTCCGACTGTTAGG	0.458000														57			25		2.44723e-14	2.81249e-14	1	1	0
WHSC1L1	54904	broad.mit.edu	37	8	38146118	38146118	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr8:38146118C>T	uc003xli.3	-	18	3906	c.3388G>A	c.(3388-3390)Gct>Act	p.A1130T	WHSC1L1_uc011lbm.2_Missense_Mutation_p.A1130T|WHSC1L1_uc010lwe.3_Missense_Mutation_p.A1081T	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	1130	AWS.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CGATCTCCAGCTGGGCACACC	0.527000			T	NUP98	AML									36			20		0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50165584	50165584	+	Splice_Site	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr19:50165584C>T	uc002poy.2	-	5	1621	c.602_splice	c.e5-1	p.E201_splice	IRF3_uc021uxp.1_Splice_Site_p.E55_splice|IRF3_uc021uxq.1_Splice_Site_p.E55_splice|IRF3_uc002pot.2_Intron|IRF3_uc021uxr.1_Intron|IRF3_uc021uxs.1_Intron|IRF3_uc002pow.3_Splice_Site_p.E201_splice|IRF3_uc021uxo.1_Splice_Site_p.E166_splice|IRF3_uc002pou.3_Splice_Site_p.E201_splice|IRF3_uc010end.2_Splice_Site_p.E201_splice|IRF3_uc002poz.1_Splice_Site_p.E201_splice|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank	NM_001197126	NP_001184055	Q14653	IRF3_HUMAN	Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA.	201	Involved in HERC5 binding.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CGAACTCCCACTCTGAGCAGC	0.662000														54			5		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102826367	102826367	+	Missense_Mutation	SNP	G	A	A	rs148856037		TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:102826367G>A	uc001phl.3	-	0	97	c.68C>T	c.(67-69)cCc>cTc	p.P23L		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	23					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ACCACCACTGGGAAGGGGCAG	0.517000														661			17		0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833659	31833659	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr6:31833659C>T	uc010jti.3	-	13	1544	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Missense_Mutation_p.R417H|SLC44A4_uc011dom.2_Missense_Mutation_p.R451H	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	493			R -> C (in dbSNP:rs6915800).			integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCGGAGTGTGCGGATGAAGGC	0.607000														79			4		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39906910	39906911	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr1:39906910_39906911insA	uc021olw.1	+	38	13914_13915	c.13914_13915insA	c.(13912-13917)tgggagfs	p.W4638fs	MACF1_uc021ols.1_Frame_Shift_Ins_p.W4133fs|MACF1_uc021olt.1_Frame_Shift_Ins_p.W4136fs	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6204					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAATGCTTGGGAGAACTTAAA	0.436													---	140	---	---	9	---					
CNTN3	5067	broad.mit.edu	37	3	74350629	74350630	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr3:74350629_74350630delTC	uc003dpm.1	-	14	2094_2095	c.2014_2015delGA	c.(2014-2016)gaafs	p.E672fs		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	672	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AACCCGAAATTCATATTCCACC	0.426													---	100	---	---	13	---					
C5orf42	65250	broad.mit.edu	37	5	37173877	37173877	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:37173877delC	uc011cpa.1	-	31	6382	c.6151delG	c.(6151-6153)gaafs	p.E2051fs	C5orf42_uc011coy.1_Frame_Shift_Del_p.E551fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.E1126fs|C5orf42_uc003jkr.1_Frame_Shift_Del_p.E84fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2051										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTAAACATTTCATCTTGCAGC	0.378													---	104	---	---	20	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	Splice_Site	INS	-	T	T	rs35342965	by1000genomes	TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:102738793_102738794insT	uc001phk.3	-	5	727	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													---	140	---	---	32	---					
ZNF207	7756	broad.mit.edu	37	17	30693707	30693710	+	Frame_Shift_Del	DEL	AAGT	-	-			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr17:30693707_30693710delAAGT	uc010csz.3	+	9	1208_1211	c.861_864delAAGT	c.(859-864)tcaagtfs	p.S287fs	ZNF207_uc002hhj.4_Frame_Shift_Del_p.S284fs|ZNF207_uc002hhh.4_Frame_Shift_Del_p.S268fs|ZNF207_uc002hhi.4_Intron|ZNF207_uc002hhk.1_Frame_Shift_Del_p.S284fs|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	268						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCACAAGCTCAAGTACAGCTTCAT	0.387													---	54	---	---	7	---					
