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
NYAP2	57624	broad.mit.edu	37	2	226516259	226516259	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:226516259C>T	uc002voe.2	+	5	2115	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	NYAP2_uc010fxa.1_3'UTR|NYAP2_uc002vof.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	647																	CAGGTACCATCATCGTTAGCC	0.512000														128			90		0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55614817	55614817	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55614817G>A	uc002qix.3	-	3	707	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	PPP1R12C_uc010yfs.2_Silent_p.L157L|PPP1R12C_uc002qiy.3_Silent_p.L231L	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	231						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCCACGTGCAGGGCAGAGGCG	0.597000														39			11		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888526	38888526	+	Missense_Mutation	SNP	G	A	A	rs143537709		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:38888526G>A	uc021wvy.1	-	25	5234	c.5035C>T	c.(5035-5037)Cgc>Tgc	p.R1679C		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1679					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1679C(2)|p.R1679H(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGTGGAGGCGATCTTCACTC	0.463000														103			60		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116960716	116960716	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:116960716C>T	uc003viz.3	-	1	515	c.215G>A	c.(214-216)tGg>tAg	p.W72*	WNT2_uc003vja.3_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	72					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTCTGCTGTCCACTCGGCCAC	0.592000														30			19		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495390	20495390	+	RNA	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:20495390C>T	uc001ytf.1	+	4		c.593C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		GAGAAAGTTTCAAGATCTTCT	0.413000														94			16		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43965500	43965500	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:43965500T>G	uc010yny.2	+	19	3047	c.2964T>G	c.(2962-2964)aaT>aaG	p.N988K	PLEKHH2_uc002rtf.3_Missense_Mutation_p.N987K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	988	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTTTATAAATGCTGCAGTTG	0.363000														52			22		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701421	56701421	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:56701421G>A	uc010ygh.2	-	3	1263	c.1263C>T	c.(1261-1263)gcC>gcT	p.A421A		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	421					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGACTCGTGGGCGAACCGCT	0.567000														39			19		0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113670641	113670641	+	Missense_Mutation	SNP	G	A	A	rs145730208		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:113670641G>A	uc002tij.3	+	0	94	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	IL37_uc002tim.3_Missense_Mutation_p.E18K|IL37_uc002tik.3_Missense_Mutation_p.E18K|IL37_uc002til.3_Missense_Mutation_p.E18K|IL37_uc002tin.3_5'Flank	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	18					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	p.E18K(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						TGAGGACTGGGAAAAAGATGA	0.438000														39			27		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90499510	90499510	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:90499510G>A	uc003pnn.1	-	6	1335	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	MDN1_uc003pnp.1_Missense_Mutation_p.P407S	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	407					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACGTCTAAGGGGGCATAGTCA	0.453000														32			25		0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532927	113532927	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:113532927C>T	uc001tuk.1	+	6	1803	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	489					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.E488*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGATGGAGTTCCACCTCATCC	0.652000														48			38		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213921659	213921659	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:213921659C>T	uc002vem.3	-	3	473	c.304G>A	c.(304-306)Gag>Aag	p.E102K	IKZF2_uc010fuu.3_Intron|IKZF2_uc002vej.3_Missense_Mutation_p.E49K|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.E102K|IKZF2_uc002vel.3_Missense_Mutation_p.E49K|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_Intron|IKZF2_uc010fuy.3_Missense_Mutation_p.E102K|IKZF2_uc002ven.3_Missense_Mutation_p.E102K	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ATTCCTCCCTCGCCTTGAAGC	0.512000														49			31		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158300698	158300698	+	Silent	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:158300698A>G	uc001frx.3	-	1	324	c.216T>C	c.(214-216)tcT>tcC	p.S72S	CD1B_uc001frw.3_Silent_p.S72S|CD1B_uc010pic.1_Silent_p.S72S	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	72					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGTTACCTTTAGACCAAGGCT	0.473000														362			65		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43575909	43575909	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:43575909C>A	uc002ovr.3	-	3	1079	c.907G>T	c.(907-909)Gtt>Ttt	p.V303F	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	303	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GAGTTACGAACAGAGCAAACA	0.453000														152			102		4.82855e-46	4.95328e-46	1	1	0
CFHR2	3080	broad.mit.edu	37	1	196928040	196928040	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:196928040G>A	uc001gtq.1	+	4	720	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CFHR2_uc001gtr.1_Missense_Mutation_p.E91K	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	215	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AGAAATTATGGAAAAATATAA	0.284000														121			15		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45632499	45632499	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:45632499G>A	uc003tne.4	+	1	799	c.781G>A	c.(781-783)Gag>Aag	p.E261K	ADCY1_uc003tnd.3_Missense_Mutation_p.E36K	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	261					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GGATGAGAACGAGAAGCAGGT	0.607000														39			18		0	0	1	0	0
CXCL5	6374	broad.mit.edu	37	4	74863796	74863796	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:74863796C>T	uc003hhk.3	-	2	377	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_002994	NP_002985	P42830	CXCL5_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 5 (CXCL5), mRNA.	87					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ATTTCCTTCCCGTTCTTCAGG	0.433000														25			28		0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121600297	121600297	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:121600297C>T	uc001tzm.3	+	4	659	c.507C>T	c.(505-507)ccC>ccT	p.P169P	P2RX7_uc001tzn.3_Silent_p.P79P|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_5'UTR|P2RX7_uc001tzq.3_Intron	NM_002562	NP_002553	A8K2Z0	A8K2Z0_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.	169						integral to membrane	ATP binding|ion channel activity|receptor activity	p.P169R(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGGTGCCCCATCGAGGCAG	0.592000														21			16		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179733897	179733897	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:179733897C>T	uc002une.2	-	14	2459	c.2341G>A	c.(2341-2343)Gat>Aat	p.D781N	CCDC141_uc002unf.1_Missense_Mutation_p.D260N	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	206							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCCTCGTAATCCTGGATTCTC	0.418000														44			37		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534545	50534545	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:50534545A>G	uc001zxz.3	-	11	2243	c.1901T>C	c.(1900-1902)aTc>aCc	p.I634T	HDC_uc001zxy.3_Missense_Mutation_p.I377T|HDC_uc010uff.2_Missense_Mutation_p.I601T	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	634					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GTAGAATTTGATGAGTTTTTT	0.507000														109			63		0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132910399	132910399	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:132910399G>A	uc003qdk.2	-	0	479	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	143					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		AACTTGGAGGGATAGAGCAGG	0.547000														35			25		0	0	1	0	0
C1orf49	84066	broad.mit.edu	37	1	178482356	178482356	+	Silent	SNP	A	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:178482356A>T	uc001glt.2	+	0	145	c.33A>T	c.(31-33)acA>acT	p.T11T	C1orf49_uc021pfd.1_Silent_p.T11T|C1orf49_uc001glu.1_Silent_p.T11T|C1orf49_uc021pfe.1_Silent_p.T11T|C1orf49_uc001glw.2_Silent_p.T11T|C1orf49_uc001glv.1_Non-coding_Transcript	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA.	11						microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						TGAAGAAAACACATCTGGTAA	0.547000														25			12		0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59730346	59730346	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:59730346G>A	uc001xdz.1	+	1	276	c.151G>A	c.(151-153)Gag>Aag	p.E51K	DAAM1_uc001xea.1_Missense_Mutation_p.E51K|DAAM1_uc001xeb.1_Missense_Mutation_p.E51K|DAAM1_uc001xdy.3_Missense_Mutation_p.E51K	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	51	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GCCCCCTGTGGAGGAGCTGGA	0.502000														53			23		0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45832452	45832452	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:45832452C>T	uc001nbp.3	+	1	1373	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	SLC35C1_uc001nbo.3_Missense_Mutation_p.P208S|SLC35C1_uc010rgm.2_Missense_Mutation_p.P208S	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN	Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.	221						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GAAGGTGCTCCCGGCGGTGGA	0.647000														29			25		0	0	1	0	0
MPV17L	255027	broad.mit.edu	37	16	15501843	15501843	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:15501843C>T	uc002ddn.2	+	3	609	c.465C>T	c.(463-465)gtC>gtT	p.V155V	MPV17L_uc002ddm.2_Silent_p.L132L	NM_001128423	NP_001121895	Q2QL34	MP17L_HUMAN	Homo sapiens MPV17 mitochondrial membrane protein-like (MPV17L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	155						integral to membrane|peroxisomal membrane				kidney(2)|large_intestine(1)|skin(1)	4						ACGCTGGAGTCTGTGGTTTTC	0.498000														31			14		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672255	39672255	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr21:39672255G>A	uc021wjc.1	+	0	1072	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	KCNJ15_uc002ywv.3_Missense_Mutation_p.E358K|KCNJ15_uc002yww.3_Missense_Mutation_p.E358K|KCNJ15_uc002ywx.3_Missense_Mutation_p.E358K	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	358					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GTACAGGCAGGAGGATCAGAG	0.468000														71			23		0	0	1	0	0
NBPF7	343505	broad.mit.edu	37	1	120381833	120381833	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:120381833C>T	uc010oxk.2	-	4	1433	c.812G>A	c.(811-813)tGg>tAg	p.W271*		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	271	NBPF 1.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		AGCATCCTGCCATTCATCTTG	0.413000														107			37		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234526430	234526430	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:234526430G>A	uc002vup.3	+	0	140	c.77G>A	c.(76-78)gGg>gAg	p.G26E	UGT1A1_uc010zmv.1_Missense_Mutation_p.G26E	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	28					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCTGAGGCAGGGAAGCTGCTG	0.582000														58			37		0	0	1	0	0
MAFB	9935	broad.mit.edu	37	20	39316997	39316997	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:39316997T>C	uc002xji.3	-	0	880	c.494A>G	c.(493-495)cAt>cGt	p.H165R		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB), mRNA.	165	Poly-His.				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				TTGGTGATGATGGTGATGGTG	0.756000			T	IGH@	MM									3			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140220944	140220944	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:140220944G>A	uc003lhs.2	+	0	38	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.R13Q	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCCTGGCGACTACTACTC	0.512000														64			36		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331371	85331371	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:85331371C>T	uc001dkl.2	-	0	472	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	LPAR3_uc009wcj.1_Missense_Mutation_p.V145M	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	145					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AGCAGTGTCACCCTCTTTTTG	0.537000														224			113		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96799182	96799182	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:96799182G>A	uc010yui.2	-	4	437	c.437C>T	c.(436-438)tCc>tTc	p.S146F		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	146					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGGGATGATGGAAATGAAGTC	0.527000														61			36		0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538645	63538645	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:63538645C>T	uc011kdm.2	+	3	1397	c.1218C>T	c.(1216-1218)acC>acT	p.T406T		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						AAAGCTTTACCTGCTCCTCAA	0.398000														17			16		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964219	123964219	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:123964219G>A	uc022bag.1	+	0	469	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	ZHX2_uc003ypk.1_Missense_Mutation_p.E157K	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	157						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ACAGTCCATCGAAACCACCAA	0.507000														93			39		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107431189	107431189	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:107431189G>A	uc004enw.4	-	21	1762	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	COL4A6_uc004env.4_Silent_p.I552I|COL4A6_uc011msn.2_Silent_p.I552I|COL4A6_uc010npk.3_Silent_p.I552I	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	553	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCATTCCTTGGATTGTACTGA	0.532000									Alport syndrome with Diffuse Leiomyomatosis					25			58		0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43088926	43088926	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:43088926C>T	uc003bdb.3	-	2	1293	c.1032G>A	c.(1030-1032)acG>acA	p.T344T	A4GALT_uc021wqo.1_Silent_p.T344T|A4GALT_uc021wqp.1_Silent_p.T344T|A4GALT_uc010gzd.3_Silent_p.T344T|A4GALT_uc021wqq.1_Silent_p.T344T	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	344					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CCTCGTGCGTCGTGGGGCAGT	0.662000														27			23		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88693758	88693758	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:88693758G>A	uc001xwm.3	-	3	764	c.642C>T	c.(640-642)atC>atT	p.I214I	KCNK10_uc001xwn.3_Silent_p.I214I|KCNK10_uc001xwo.3_Silent_p.I209I	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	209					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TTTTCCCAAAGATGGTTCCAA	0.408000														97			58		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767845	105767845	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:105767845A>T	uc004bbs.2	+	4	1002	c.932A>T	c.(931-933)gAa>gTa	p.E311V		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	311	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ACTGAGAAAGAATCTGCTGAT	0.393000														22			6		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155264286	155264286	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:155264286C>T	uc001fkb.4	-	5	991	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	PKLR_uc001fka.4_Missense_Mutation_p.E287K	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	318					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TTCACGCCTTCGTGGTTCTCA	0.582000														56			120		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180044257	180044257	+	Missense_Mutation	SNP	C	T	T	rs148196085	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:180044257C>T	uc001gnt.3	+	27	6051	c.5668C>T	c.(5668-5670)Cgt>Tgt	p.R1890C	CEP350_uc009wxl.2_Missense_Mutation_p.R1889C|CEP350_uc001gnv.3_Missense_Mutation_p.R25C	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1890						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCAGAAATTCGTCAAATGGA	0.438000														18			7		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31305313	31305314	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:31305313_31305314CC>TT	uc003jhe.2	+	6	1392_1393	c.1032_1033CC>TT	c.(1030-1035)accctt>acTTtt	p.L345F	CDH6_uc003jhd.2_Missense_Mutation_p.L345F	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	345	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAGTGTATACCCTTAAAGTGGA	0.455000														56			25		0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52141932	52141932	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:52141932G>A	uc003pan.1	-	7	1208	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	MCM3_uc011dwu.1_Silent_p.I320I	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	366	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CAGTGGTGGGGATAGCTCGGG	0.597000														47			29		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22375890	22375890	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:22375890G>A	uc002nqs.1	-	1	376	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L20M(2)		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)				AAAATGATCAGGTCTGGCTTA	0.403000														54			29		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78923611	78923611	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:78923611G>A	uc004akc.2	+	27	4112	c.3574G>A	c.(3574-3576)Gga>Aga	p.G1192R		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	847					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AACCTGCAATGGATCTGCAAC	0.433000														28			8		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230253102	230253102	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:230253102G>A	uc002vpv.3	-	10	1881	c.1734C>T	c.(1732-1734)tgC>tgT	p.C578C		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	578	EGF-like 9.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.C578C(2)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGTCAATGTCGCACTCTTCAC	0.502000														68			50		0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26883892	26883892	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:26883892G>A	uc002hbo.2	-	8	1406	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	PIGS_uc002hbn.2_Missense_Mutation_p.P337S|PIGS_uc010wap.1_Missense_Mutation_p.P284S	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	345					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GTGGCCACTGGAGCGCCATCC	0.562000														21			19		0	0	1	0	0
B3GNT2	10678	broad.mit.edu	37	2	62450370	62450370	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:62450370T>G	uc021vii.1	+	0	1015	c.1015T>G	c.(1015-1017)Tgc>Ggc	p.C339G	B3GNT2_uc002sbs.3_Missense_Mutation_p.C339G	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), mRNA.	339						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TACTGGAATGTGCCTTCAGAA	0.488000														47			37		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428151	10428151	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:10428151C>T	uc010coi.3	-	33	5022	c.4894G>A	c.(4894-4896)Gaa>Aaa	p.E1632K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1632K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1632					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCTGGATTTCCATTTCATTG	0.507000														57			58		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81609793	81609793	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:81609793G>A	uc001xvd.1	+	9	1547	c.1391G>A	c.(1390-1392)gGg>gAg	p.G464E		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	464					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.M463V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTCTGCATGGGGATGTACCTG	0.542000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							97			56		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26822711	26822711	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:26822711C>T	uc010wan.2	+	9	1561	c.1494C>T	c.(1492-1494)acC>acT	p.T498T	SLC13A2_uc010wam.2_Silent_p.T405T|SLC13A2_uc002hbh.3_Silent_p.T449T|SLC13A2_uc010wao.2_Silent_p.T406T|SLC13A2_uc002hbi.3_Silent_p.T378T	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	449						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ACAAGCTGACCCCACTGCAGA	0.617000														66			42		0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9791880	9791880	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:9791880C>T	uc001aqh.3	-	16	3261	c.2502G>A	c.(2500-2502)ccG>ccA	p.P834P	CLSTN1_uc001aqi.3_Silent_p.P824P|CLSTN1_uc010oag.2_Silent_p.P815P|CLSTN1_uc001aqf.3_Silent_p.P70P	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	834					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AGCGGTGTTCCGGGTGCACGA	0.587000														52			20		0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47299945	47299945	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:47299945G>A	uc002iop.1	+	7	1467	c.969G>A	c.(967-969)aaG>aaA	p.K323K	ABI3_uc002ioq.1_Silent_p.K317K	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	323	SH3.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCAGCCAGAAGGACAATGAGC	0.597000										HNSCC(55;0.14)				38			17		0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947433	145947433	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:145947433G>A	uc003zdv.4	-	4	1868	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P538P(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCCAGTGGGAATCTGTCCA	0.483000														67			35		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94159577	94159577	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:94159577C>T	uc011cdt.2	+	7	1439	c.1181C>T	c.(1180-1182)cCc>cTc	p.P394L	GRID2_uc011cdu.2_Missense_Mutation_p.P299L|GRID2_uc010ikz.1_Missense_Mutation_p.P75L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	394					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGAGGCAATCCCAATGTCCAC	0.403000														29			31		0	0	1	0	0
TIGD6	81789	broad.mit.edu	37	5	149374406	149374406	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:149374406C>T	uc003lri.3	-	1	2268	c.1506G>A	c.(1504-1506)atG>atA	p.M502I	TIGD6_uc003lrj.3_Missense_Mutation_p.M502I|TIGD6_uc021yft.1_Missense_Mutation_p.M502I	NM_001243253	NP_001230182	Q17RP2	TIGD6_HUMAN	Homo sapiens tigger transposable element derived 6 (TIGD6), transcript variant 2, mRNA.	502					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCACTCTTTTCATTAAATATT	0.313000														22			23		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11364989	11364989	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:11364989G>A	uc003jfa.1	-	7	1336	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	CTNND2_uc010itt.2_Silent_p.A306A|CTNND2_uc011cmy.1_Silent_p.A60A|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	397					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCTGTATGAGGCTCGGGAAC	0.493000														26			9		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9609151	9609151	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:9609151C>T	uc003wss.3	+	18	2870	c.2865C>T	c.(2863-2865)gcC>gcT	p.A955A	TNKS_uc011kww.2_Silent_p.A718A|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	955					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGATAGATGCCATGCCCCCAG	0.428000														119			69		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52676362	52676362	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:52676362G>T	uc001vge.3	-	9	816	c.676C>A	c.(676-678)Ccg>Acg	p.P226T		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	226	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P225S(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAAACCCCGGAGATATTGGG	0.423000														118			63		1.7104e-27	1.74813e-27	1	1	0
C17orf58	284018	broad.mit.edu	37	17	65988212	65988212	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:65988212C>T	uc002jgi.4	-	2	426	c.111G>A	c.(109-111)agG>agA	p.R37R	C17orf58_uc002jgj.4_3'UTR	NM_181655	NP_858041	Q2M2W7	CQ058_HUMAN	Homo sapiens chromosome 17 open reading frame 58 (C17orf58), transcript variant 1, mRNA.	37										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCACAATATACCTGCTGCCTG	0.473000														64			29		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353965	45353965	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:45353965C>T	uc002xsl.3	+	1	387	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	97						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTGGCTGGTTCCCTGGCCTGG	0.632000														82			25		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318098	30318098	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:30318098C>T	uc009xle.2	-	2	1116	c.979G>A	c.(979-981)Gag>Aag	p.E327K	KIAA1462_uc001iux.3_Missense_Mutation_p.E327K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E189K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	327	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGGCAGAGCTCATGCCTGGGG	0.597000														129			57		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193049065	193049065	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:193049065G>A	uc011bsq.2	-	11	1308	c.1308C>T	c.(1306-1308)atC>atT	p.I436I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	436					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L435L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CGGTGAGGAGGATCAGGGCCA	0.512000														38			22		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157566	154157566	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:154157566G>T	uc004fmt.3	-	13	4670	c.4499C>A	c.(4498-4500)cCg>cAg	p.P1500Q		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1500	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTCTGGTTTCGGGAGAACAGT	0.448000														13			51		3.21987e-24	3.27884e-24	1	1	0
CLEC18B	497190	broad.mit.edu	37	16	74443458	74443458	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:74443458G>A	uc002fct.3	-	11	1520	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	CLEC18B_uc002fcu.3_Silent_p.I431I	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	440	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAAACTGGCAGATGTAACGGT	0.597000														50			10		0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198355012	198355012	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:198355012A>G	uc002uui.3	-	7	1015	c.878T>C	c.(877-879)gTt>gCt	p.V293A	HSPD1_uc010zgx.2_Missense_Mutation_p.V284A|HSPD1_uc010fsm.3_Missense_Mutation_p.V104A|HSPD1_uc002uuk.3_Missense_Mutation_p.V293A	NM_002156	NP_955472	P10809	CH60_HUMAN	Homo sapiens heat shock 60kDa protein 1 (chaperonin) (HSPD1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	293					'de novo' protein folding|B cell cytokine production|B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|T cell activation|activation of caspase activity|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|negative regulation of apoptosis|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|protein maturation|protein refolding|protein stabilization|response to unfolded protein	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|DNA replication origin binding|cell surface binding|chaperone binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CTGAAGACCAACCTTTAGCCT	0.383000														44			16		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39006788	39006788	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:39006788C>T	uc002oit.3	+	64	9746	c.9616C>T	c.(9616-9618)Ctg>Ttg	p.L3206L	RYR1_uc002oiu.3_Silent_p.L3206L|RYR1_uc002oiv.1_Silent_p.L126L|RYR1_uc010xuf.1_Silent_p.L126L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3206					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGGCGTTCCTGGAGCCGCA	0.682000														4			4		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502223	140502223	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:140502223G>A	uc003lip.1	+	0	643	c.643G>A	c.(643-645)Gat>Aat	p.D215N		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	215	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCGCTGGATGGTGGGTC	0.517000														81			39		0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56504991	56504991	+	Silent	SNP	T	C	C	rs74519150	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:56504991T>C	uc001sjm.3	+	10	1382	c.963T>C	c.(961-963)ttT>ttC	p.F321F		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	321	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AGTTTAAATTTACAGTTCTGC	0.443000														108			5		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75705148	75705148	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:75705148G>A	uc002bai.3	-	4	971	c.712C>T	c.(712-714)Cct>Tct	p.P238S	SIN3A_uc002baj.3_Missense_Mutation_p.P238S|SIN3A_uc010uml.2_Missense_Mutation_p.P238S	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	238	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ggctgggcaggagctggggct	0.572000														41			37		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183811	197183811	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:197183811G>A	uc002utm.1	-	8	1986	c.1803C>T	c.(1801-1803)ctC>ctT	p.L601L	HECW2_uc002utl.1_Silent_p.L245L	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	601					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGCCCTGATCGAGAGACTCGG	0.592000														30			23		0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35705811	35705811	+	Silent	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:35705811A>G	uc003ola.3	+	1	279	c.252A>G	c.(250-252)gcA>gcG	p.A84A	FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Silent_p.A57A	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	57							binding										TAGGCCTGGCAGTCGAGCGAG	0.592000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			32		0	0	1	0	0
RSG1	79363	broad.mit.edu	37	1	16560109	16560109	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:16560109G>A	uc001ayd.3	-	1	685	c.263C>T	c.(262-264)aCc>aTc	p.T88I		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	Homo sapiens REM2 and RAB-like small GTPase 1 (RSG1), mRNA.	88	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						CCACTCACCGGTGGTCTCGTG	0.622000														65			38		0	0	1	0	0
SIAH2	6478	broad.mit.edu	37	3	150460058	150460058	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:150460058G>A	uc003eyi.3	-	1	1472	c.845C>T	c.(844-846)tCg>tTg	p.S282L		NM_005067	NP_005058	O43255	SIAH2_HUMAN	Homo sapiens seven in absentia homolog 2 (Drosophila) (SIAH2), mRNA.	282	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.R281H(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCATGAATCGAACGGGGCGT	0.547000														76			11		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45461956	45461956	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:45461956C>T	uc003jok.3	-	2	1028	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	335						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACAACCATTTCATTTAAAGAC	0.398000														28			11		0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617672	111617672	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:111617672G>A	uc004bdi.3	-	0	604	c.539C>T	c.(538-540)tCc>tTc	p.S180F		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	180						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.T179M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAACGACTGGGACGTCACGTG	0.647000														52			11		0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127669886	127669886	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:127669886C>T	uc003vmk.3	-	1	945	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.E270K	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	270						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AAGTTGAGTTCCACAAGTGAA	0.532000														62			49		0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43347890	43347890	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:43347890G>A	uc002iiw.1	-	11	1968	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	MAP3K14_uc002iiu.1_Missense_Mutation_p.S151F|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Missense_Mutation_p.S205F	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	621	Interaction with ZFP91.|Protein kinase.				I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGGGGCGCAGGAGGGTGGGAT	0.642000														18			10		0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38373873	38373874	+	Splice_Site	DNP	CC	TT	TT			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:38373873_38373874CC>TT	uc003aun.1	-	3	975	c.697_splice	c.e3+1	p.G233_splice	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Splice_Site_p.G233_splice	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	233						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TCAGCACTCACCTGAGGGGTGC	0.644000														43			16		0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922930	17922930	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:17922930G>A	uc002nhl.1	+	2	1265	c.1118G>A	c.(1117-1119)tGa>tAa	p.*373*	B3GNT3_uc010ebd.1_Silent_p.*373*|B3GNT3_uc010ebe.1_Silent_p.*373*	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	0					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CAGATCTACTGAGTCAGCATC	0.572000														20			34		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16877063	16877063	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:16877063G>A	uc001ioo.3	-	63	10364	c.10312C>T	c.(10312-10314)Cat>Tat	p.H3438Y		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3438	CUB 26.				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			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)	CCAAGTGAATGAAAAAAGAGG	0.428000														45			30		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34164422	34164422	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:34164422C>T	uc001bxm.1	-	23	4033	c.3856G>A	c.(3856-3858)Ggt>Agt	p.G1286S	CSMD2_uc001bxn.1_Missense_Mutation_p.G1246S|CSMD2_uc001bxo.1_Missense_Mutation_p.G159S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1246	CUB 8.					integral to membrane|plasma membrane	protein binding	p.G1246S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTCACTACCCCGCAGGCTG	0.607000														61			18		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74453587	74453587	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:74453587G>A	uc003hhd.1	-	4	571	c.448C>T	c.(448-450)Cct>Tct	p.P150S	RASSF6_uc003hhc.1_Missense_Mutation_p.P118S|RASSF6_uc010iik.1_Missense_Mutation_p.P118S|RASSF6_uc010iil.1_Missense_Mutation_p.P106S	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	150					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCAGACATAGGAATCTGGGTC	0.373000														29			30		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141708471	141708471	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:141708471G>A	uc003vwy.3	+	2	347	c.293G>A	c.(292-294)cGa>cAa	p.R98Q		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	98	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R98Q(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAATTGGAACGAATTAATTGC	0.403000														56			26		0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30881671	30881671	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:30881671T>G	uc001rji.1	-	7	2444	c.1693A>C	c.(1693-1695)Att>Ctt	p.I565L	CAPRIN2_uc001rjf.1_Missense_Mutation_p.I362L|CAPRIN2_uc001rjg.1_Missense_Mutation_p.I232L|CAPRIN2_uc001rjh.1_Missense_Mutation_p.I565L|CAPRIN2_uc001rjk.4_Missense_Mutation_p.I565L|CAPRIN2_uc001rjj.1_Missense_Mutation_p.I232L|CAPRIN2_uc001rjl.4_Missense_Mutation_p.I565L|CAPRIN2_uc001rjm.1_Missense_Mutation_p.I232L|CAPRIN2_uc001rjn.1_Missense_Mutation_p.I232L	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	565					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTGGAGAAATCTGTGACTGT	0.448000														101			38		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55508782	55508783	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55508782_55508783CC>TT	uc021vbq.1	+	11	3088_3089	c.2977_2978CC>TT	c.(2977-2979)ccc>TTc	p.P993F	NLRP2_uc010yfp.2_Missense_Mutation_p.P970F|NLRP2_uc002qij.3_Missense_Mutation_p.P993F|NLRP2_uc010esp.3_Missense_Mutation_p.P971F|NLRP2_uc010esn.3_Missense_Mutation_p.P969F|NLRP2_uc010eso.3_Missense_Mutation_p.P990F	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	993					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGTCAGAATCCCTTGGGGTCT	0.545000														102			28		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103496791	103496791	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:103496791G>A	uc001dum.3	-	4	979	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Nonsense_Mutation_p.Q221*|COL11A1_uc001dun.3_Nonsense_Mutation_p.Q221*|COL11A1_uc009weh.3_Nonsense_Mutation_p.Q221*	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	221	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.Q221K(3)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAAAACTGCTGAATGTCCCCC	0.403000														24			9		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14749103	14749103	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:14749103G>A	uc002mzi.4	-	10	1446	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V	EMR3_uc010dzp.3_Missense_Mutation_p.A381V|EMR3_uc010xnv.2_Missense_Mutation_p.A307V	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	433					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.A432A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CCAGGTGAAGGCGGCCAGGTA	0.562000														56			16		0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230372422	230372422	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:230372422C>T	uc010pwa.1	+	5	630	c.558C>T	c.(556-558)ctC>ctT	p.L186L	GALNT2_uc010pvy.1_Silent_p.L148L|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	186	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACGGGGCTCTCTTGGGGAAAA	0.408000														61			32		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729165	51729165	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:51729165G>A	uc002pwa.2	+	2	565	c.525G>A	c.(523-525)ccG>ccA	p.P175P	CD33_uc010eos.1_Silent_p.P175P|CD33_uc010eot.1_Silent_p.P48P|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	175	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GAACACCCCCGATCTTCTCCT	0.627000														52			34		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960983	73960983	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:73960983G>A	uc004eby.3	-	2	4026	c.3409C>T	c.(3409-3411)Cag>Tag	p.Q1137*		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1137					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATATGGAACTGAAACTGGTGA	0.413000														15			43		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79361262	79361262	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:79361262G>A	uc021yaw.1	+	8	1347	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	386	EGF-like 3; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGTCGAAATGGAGCGTGCGT	0.388000														71			26		0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28024150	28024150	+	Splice_Site	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:28024150C>T	uc001ity.4	-	4	727	c.502_splice	c.e4+1	p.D168_splice	MKX_uc001itx.4_Splice_Site_p.D168_splice	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	168					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ATTAACAAACCTTCAGAACAT	0.358000														51			28		0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54503006	54503006	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:54503006C>T	uc002qct.3	+	2	1115	c.525C>T	c.(523-525)gcC>gcT	p.A175A	CACNG6_uc002qcu.3_Intron|CACNG6_uc002qcv.3_Intron	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	175						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GAGTTGGAGCCGTCTGCTTTG	0.587000														86			59		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185237043	185237043	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:185237043G>A	uc003fpm.3	-	5	883	c.773C>T	c.(772-774)tCc>tTc	p.S258F	LIPH_uc010hyh.3_Missense_Mutation_p.S224F	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	258					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTCTCTCAGGGAAGACAGGTA	0.463000														81			12		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43508618	43508618	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:43508618G>A	uc003tid.1	+	15	3618	c.3013G>A	c.(3013-3015)Gac>Aac	p.D1005N	HECW1_uc011kbi.1_Missense_Mutation_p.D971N	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1005					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCACAACCGGGACTTGGTGAA	0.537000														83			69		0	0	1	0	0
TRIM27	5987	broad.mit.edu	37	6	28872089	28872089	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:28872089G>A	uc003nlr.3	-	7	1659	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	TRIM27_uc003nls.3_Intron|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	434	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCCACCCGCTGGAGCGGGGTC	0.532000			T	RET	papillary thyroid									117			51		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70450945	70450945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:70450945C>T	uc002lkw.3	-	6	1120	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	NETO1_uc002lky.2_Missense_Mutation_p.R279Q	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	279	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CATCTGAAATCGGCTGTTTCG	0.453000														102			46		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53986346	53986346	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:53986346C>T	uc011dxa.2	+	1	231	c.198C>T	c.(196-198)ttC>ttT	p.F66F	MLIP_uc003pcf.2_Silent_p.F55F|MLIP_uc003pcg.4_Silent_p.F55F|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	55						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCTCTAAATTCCTTGTTAAAA	0.358000														55			25		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					55			65		0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64022912	64022912	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:64022912C>T	uc009ypi.3	+	5	639	c.512C>T	c.(511-513)cCc>cTc	p.P171L	PLCB3_uc009ypg.2_Missense_Mutation_p.P171L|PLCB3_uc009yph.2_Missense_Mutation_p.P104L	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	171					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GGTCGGATCCCCGTCAAGAAG	0.607000														100			27		0	0	1	0	0
UBE2Z	65264	broad.mit.edu	37	17	47004478	47004478	+	Silent	SNP	T	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:47004478T>C	uc002ioi.3	+	6	1182	c.1047T>C	c.(1045-1047)caT>caC	p.H349H		NM_023079	NP_075567	Q9H832	UBE2Z_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Z (UBE2Z), mRNA.	349					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity										CAGACCTTCATGGGAGCCTGA	0.557000														20			13		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18882973	18882973	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:18882973C>T	uc002guw.3	-	3	871	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	235										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCCGCTGCTCCGCACTCTGAG	0.592000														24			36		0	0	1	0	0
C14orf169	79697	broad.mit.edu	37	14	73959321	73959321	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:73959321G>T	uc001xok.1	+	1	1676	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	Homo sapiens chromosome 14 open reading frame 169 (C14orf169), mRNA.	534					negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen								BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		GGAGGCTGGAGAACCTGTAAA	0.532000														36			21		1.40151e-16	1.4168e-16	1	1	0
EPS8L1	54869	broad.mit.edu	37	19	55591124	55591124	+	Silent	SNP	T	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55591124T>C	uc002qis.4	+	4	288	c.184T>C	c.(184-186)Ttg>Ctg	p.L62L	EPS8L1_uc010ess.1_Silent_p.L44L|EPS8L1_uc010est.1_Silent_p.L62L|EPS8L1_uc010yfr.2_5'UTR|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_5'Flank|EPS8L1_uc002qiv.3_5'Flank|EPS8L1_uc002qiw.3_5'Flank	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	62						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CTCCAGGAAGTTGGCCGTCAT	0.632000														22			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440911	179440911	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:179440911G>A	uc021vsy.1	-	274	62469	c.62244C>T	c.(62242-62244)atC>atT	p.I20748I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I14443I|TTN_uc021vta.1_Silent_p.I14376I|TTN_uc021vtb.1_Silent_p.I14251I|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21675	Fibronectin type-III 50.						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)			TGATGGCACTGATTCTGAAGT	0.478000														47			22		0	0	1	0	0
KIAA1653	0	broad.mit.edu	37	22	20294126	20294126	+	RNA	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:20294126G>A	uc002zrw.1	+	0		c.2566G>A								Homo sapiens mRNA for KIAA1653 protein, partial cds.																		TGGGGACCCGGGACTCATGCA	0.642000														10			4		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61827755	61827755	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:61827755G>A	uc001jky.3	-	37	12595	c.12257C>T	c.(12256-12258)cCa>cTa	p.P4086L	ANK3_uc001jkw.3_Missense_Mutation_p.P607L|ANK3_uc009xpa.3_Missense_Mutation_p.P607L|ANK3_uc001jkx.3_Missense_Mutation_p.P651L|ANK3_uc010qih.2_Missense_Mutation_p.P1474L|ANK3_uc001jkz.4_Missense_Mutation_p.P1467L|ANK3_uc001jkv.3_Missense_Mutation_p.P6L|ANK3_uc009xpb.1_Non-coding_Transcript	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4086					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCGTTCACATGGACTCTGTGG	0.383000														70			29		0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161481	43161481	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr21:43161481G>A	uc002yzn.1	-	7	1920	c.1872C>T	c.(1870-1872)atC>atT	p.I624I		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	624						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.I624M(2)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGCACAGGTCGATGAGGATGC	0.692000														107			49		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25568558	25568558	+	Silent	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:25568558A>G	uc002kwg.2	-	10	2130	c.1671T>C	c.(1669-1671)gcT>gcC	p.A557A	CDH2_uc010xbn.1_Silent_p.A526A	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	557	Cadherin 4.				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			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						GGTCCAAAACAGCAATTGTAG	0.323000														24			20		0	0	1	0	0
EBLN2	55096	broad.mit.edu	37	3	73111848	73111848	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:73111848C>T	uc003dpj.3	+	0	1039	c.616C>T	c.(616-618)Ctc>Ttc	p.L206F	PPP4R2_uc003dph.1_Intron|PPP4R2_uc003dpi.1_Intron	NM_018029	NP_060499	Q6P2I7	EBLN2_HUMAN	Homo sapiens endogenous Bornavirus-like nucleoprotein 2 (EBLN2), mRNA.	206							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CACCAGCAGTCTCCAAGTTCA	0.458000														54			40		0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11369782	11369782	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:11369782C>T	uc002dau.1	-	1	394	c.284G>A	c.(283-285)aGg>aAg	p.R95K	RMI2_uc002daq.1_Intron|PRM3_uc002dat.1_5'Flank	NM_002762	NP_002753	P04554	PRM2_HUMAN	Homo sapiens protamine 2 (PRM2), mRNA.	95					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						TGTTCTCTTCCTGGTTCTGCA	0.547000														20			11		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764720	82764720	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:82764720G>A	uc003uhx.2	-	2	2435	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	PCLO_uc003uhv.2_Missense_Mutation_p.P716S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	662	Pro-rich.				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						TTGGCTGAAGGAGAGCCATGA	0.547000														58			30		0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204045234	204045234	+	Splice_Site	SNP	T	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:204045234T>G	uc002uzt.3	+	42	6841	c.6508_splice	c.e42+1	p.Q2170_splice	NBEAL1_uc021vvj.1_Splice_Site_p.Q873_splice	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2170	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAAATCAAAATCGTAAGAAAT	0.338000														25			13		0	0	1	0	0
TMEM208	29100	broad.mit.edu	37	16	67262476	67262476	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:67262476G>A	uc002esi.2	+	3	347	c.241G>A	c.(241-243)Gag>Aag	p.E81K	LRRC29_uc002ese.3_5'Flank|LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|TMEM208_uc002esj.2_Non-coding_Transcript	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN	Homo sapiens transmembrane protein 208 (TMEM208), mRNA.	81						integral to membrane				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGCGTTCTCTGAGGATGGGGC	0.617000														12			6		0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15894599	15894599	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:15894599C>T	uc001aws.3	+	14	2396	c.2276C>T	c.(2275-2277)tCt>tTt	p.S759F	DNAJC16_uc001awt.3_Missense_Mutation_p.S447F|DNAJC16_uc001awu.3_Non-coding_Transcript	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	759					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGCAAGCTCTCTTTATGGATG	0.488000														57			34		0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10269209	10269209	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:10269209G>A	uc021vdr.1	+	8	1176	c.1125G>A	c.(1123-1125)atG>atA	p.M375I		NM_001034	NP_001159403	P31350	RIR2_HUMAN	Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA.	315					DNA replication|deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		TCATTGGGATGAATTGCACTC	0.418000														43			54		0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61924338	61924338	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:61924338C>T	uc001xfn.3	+	8	1524	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L	PRKCH_uc010tsa.2_Silent_p.L246L	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	407	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GAAAAGGATCCTGTCTCTGGC	0.488000														149			78		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672737	141672737	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:141672737G>A	uc003vwx.1	-	0	837	c.753C>T	c.(751-753)tcC>tcT	p.S251S		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	251					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.V250I(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGCAGAAAAAGGAGACAAGAG	0.502000														93			46		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56729236	56729236	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:56729236G>A	uc010dcz.2	-	1	245	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	TEX14_uc002iwr.2_Missense_Mutation_p.L43F|TEX14_uc002iws.2_Missense_Mutation_p.L43F|TEX14_uc010dda.2_5'UTR	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	43						cytoplasm	ATP binding|protein kinase activity	p.L43I(3)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTTTCTTAAGAATTTTCTTC	0.413000														77			39		0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	886159	886159	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:886159A>G	uc002lqd.1	-	4	641	c.490T>C	c.(490-492)Ttc>Ctc	p.F164L	MED16_uc010drw.2_5'UTR|MED16_uc002lqe.3_Missense_Mutation_p.F153L|MED16_uc002lqf.3_Missense_Mutation_p.F153L|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.F153L|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	164					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGGTGAGAACTTGACTCGG	0.682000														18			11		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117708985	117708985	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:117708985C>T	uc003pxp.1	-	12	2171	c.1972G>A	c.(1972-1974)Ggc>Agc	p.G658S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	658	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GACCAGGGGCCTGGCCTCTTT	0.478000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									52			51		0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197508692	197508692	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:197508692C>T	uc003fyi.2	+	8	1088	c.869C>T	c.(868-870)aCg>aTg	p.T290M	FYTTD1_uc011bui.1_Missense_Mutation_p.T264M|FYTTD1_uc011buj.1_Non-coding_Transcript|FYTTD1_uc011buk.1_Missense_Mutation_p.T223M	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA.	290					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		ACAGGGATGACGTTGAATGAG	0.418000														23			16		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398311	10398311	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:10398311C>T	uc002gmo.3	-	36	5497	c.5403G>A	c.(5401-5403)ctG>ctA	p.L1801L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1801						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1800H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCCTCATCCAGACGATGCT	0.547000														46			79		0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19380941	19380941	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:19380941C>T	uc022btq.1	-	25	3594	c.3594G>A	c.(3592-3594)gaG>gaA	p.E1198E	MAP3K15_uc004czj.2_Silent_p.E633E|MAP3K15_uc004czk.2_Silent_p.E673E|MAP3K15_uc004czi.2_Silent_p.E132E	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1198							ATP binding|MAP kinase kinase kinase activity|metal ion binding			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)					GGTACTCTCTCTCTTTTTCAA	0.328000														22			61		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60742008	60742008	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:60742008C>T	uc002jad.3	+	1	620	c.218C>T	c.(217-219)cCt>cTt	p.P73L	Y_RNA_uc021ubi.1_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	73	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACCAGCCTCCCTGCCCAGCGC	0.647000														61			43		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52257747	52257747	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:52257747G>A	uc003ddb.3	-	4	1086	c.876C>T	c.(874-876)ctC>ctT	p.L292L	TLR9_uc003dda.2_Silent_p.L195L	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	195					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCAGGCCAAGGAGGGCACCCG	0.612000														59			37		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184009960	184009960	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:184009960C>T	uc003fni.4	+	18	2624	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	ECE2_uc003fnl.4_Silent_p.F790F|ECE2_uc003fnm.4_Silent_p.F744F|ECE2_uc003fnk.4_Silent_p.F715F	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	862	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			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)			CCCGTGACTTCCTGCGGCACT	0.662000														41			18		0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38079395	38079395	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:38079395C>T	uc001cbl.2	-	6	1498	c.606G>A	c.(604-606)agG>agA	p.R202R	RSPO1_uc009vvf.2_Silent_p.R175R|RSPO1_uc001cbm.2_Silent_p.R202R|RSPO1_uc009vvg.2_Intron	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	202	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACGGCACTCTCCTCACTGTGC	0.667000														31			10		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21971084	21971084	+	Splice_Site	SNP	C	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:21971084C>G	uc001rfh.3	-	30	3791	c.3771_splice	c.e30+1	p.T1257_splice	ABCC9_uc001rfi.1_Splice_Site_p.T1257_splice	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1257	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.T1257T(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCATACCTACCGTAAGTGCAT	0.418000														89			31		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785936	111785936	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:111785936C>T	uc001tsa.2	+	21	4422	c.4268C>T	c.(4267-4269)tCc>tTc	p.S1423F		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1423	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S1423S(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						ATCTCCCCATCCCCACCTGGC	0.652000														72			39		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542513	179542513	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:179542513C>T	uc021vsy.1	-	142	30619	c.30394G>A	c.(30394-30396)Gaa>Aaa	p.E10132K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6793K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11059	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTAGAACTTCCTCTTCCTCA	0.438000														80			47		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761907	130761907	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:130761907C>T	uc003qcb.3	+	1	2718	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	TMEM200A_uc003qca.3_Missense_Mutation_p.R114C|TMEM200A_uc010kfh.3_Missense_Mutation_p.R114C|TMEM200A_uc010kfi.3_Missense_Mutation_p.R114C|TMEM200A_uc021zfg.1_Missense_Mutation_p.R114C	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	114						integral to membrane		p.R114H(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGTGGTGGTTCGCTTCTTTGA	0.408000														36			36		0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113661650	113661650	+	RNA	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:113661650C>T	uc001pof.1	+	0		c.1698C>T								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		TGCCATGATCCCTCAGTGCAT	0.502000														32			11		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672471	186672471	+	Silent	SNP	T	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:186672471T>C	uc002upl.3	+	16	18705	c.18705T>C	c.(18703-18705)gtT>gtC	p.V6235V	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTGTGGAAGTTGAAAACATCG	0.393000														42			45		0	0	1	0	0
UPP1	7378	broad.mit.edu	37	7	48146999	48146999	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:48146999A>G	uc003toj.3	+	8	1217	c.688A>G	c.(688-690)Aag>Gag	p.K230E	UPP1_uc003tok.3_Missense_Mutation_p.K230E|UPP1_uc003tol.3_Missense_Mutation_p.K230E|UPP1_uc011kch.2_Missense_Mutation_p.K23E|UPP1_uc003ton.3_Missense_Mutation_p.K93E	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	230					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						CTACACGGAGAAGGACAAGCA	0.592000														56			47		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986578	51986578	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:51986578C>T	uc002pwv.1	+	4	1164	c.1164C>T	c.(1162-1164)tgC>tgT	p.C388C		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	388						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGGCTCATGCTTTGCACATC	0.592000														25			21		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12976590	12976590	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:12976590T>C	uc002mvm.3	+	15	1992	c.1864T>C	c.(1864-1866)Tcc>Ccc	p.S622P		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	622	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACTCCTCATATCCAGCCTCCT	0.577000														44			14		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3028268	3028268	+	Silent	SNP	C	T	T	rs144086355		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:3028268C>T	uc022brz.1	+	9	1501	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	ARSF_uc004cre.2_Silent_p.A455A|ARSF_uc004crf.2_Silent_p.A455A	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	455						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTGCACGCCGTGCGGTGGA	0.582000														30			42		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296428	29296429	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:29296428_29296429CC>TA	uc002rmt.2	-	0	699_700	c.699_700GG>TA	c.(697-702)ttgggg>ttTAgg	p.233_234LG>FR		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	233					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GAGATCTCCCCCAACAGCTGGC	0.564000														71			21		0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195594947	195594947	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:195594947G>A	uc003fvu.1	-	11	2720	c.2177C>T	c.(2176-2178)gCc>gTc	p.A726V	TNK2_uc003fvq.1_Missense_Mutation_p.A133V|TNK2_uc003fvr.1_Missense_Mutation_p.A251V|TNK2_uc003fvs.1_Missense_Mutation_p.A758V|TNK2_uc003fvt.1_Missense_Mutation_p.A804V|TNK2_uc010hzw.1_Non-coding_Transcript	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	726	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGGAGAGGGGGCCGGGGAGCC	0.721000														8			7		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898218	49898218	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:49898218G>A	uc003cxt.1	-	7	899	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F	CAMKV_uc011bcy.1_Missense_Mutation_p.L161F|CAMKV_uc003cxv.1_Missense_Mutation_p.L208F|CAMKV_uc003cxw.1_Missense_Mutation_p.L68F|CAMKV_uc003cxx.1_Missense_Mutation_p.L68F|CAMKV_uc003cxu.2_Missense_Mutation_p.L236F|CAMKV_uc011bcz.1_Missense_Mutation_p.L199F|CAMKV_uc011bda.1_Missense_Mutation_p.L193F|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	236	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTGCGGAAGAGATTCTTATCA	0.498000														129			62		0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47711663	47711663	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:47711663G>A	uc001ngg.3	-	9	1898	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Silent_p.F494F|AGBL2_uc001ngh.1_Silent_p.F476F	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	532					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AAATACAAGGGAAAGACTCCT	0.428000														57			17		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744645	154744645	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:154744645G>A	uc021pah.1	-	2	1568	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	KCNN3_uc001ffo.3_Silent_p.I113I|KCNN3_uc001ffp.3_Silent_p.I418I|KCNN3_uc009wox.1_Silent_p.I418I	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	423						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TGACTCGGGCGATCAGGTACA	0.602000														109			23		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5067968	5067968	+	Silent	SNP	T	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:5067968T>A	uc010qyv.2	+	0	213	c.213T>A	c.(211-213)atT>atA	p.I71I		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTCCACTATTGATTTGGCCC	0.493000														48			12		0	0	1	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979762	12979762	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:12979762C>T	uc001aup.3	+	3	1037	c.954C>T	c.(952-954)atC>atT	p.I318I		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	318												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCGAGCATCCGTCAATTAA	0.582000														137			49		0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120657891	120657891	+	RNA	SNP	T	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:120657891T>C	uc001tya.3	-	0		c.30A>G			PXN_uc001txu.3_5'Flank|PXN_uc001txx.3_Intron|PXN_uc001txt.3_Intron|PXN_uc001txv.3_Intron|PXN_uc001txy.3_Intron|PXN_uc001txz.3_Non-coding_Transcript			P49023	PAXI_HUMAN	Homo sapiens cDNA: FLJ23042 fis, clone LNG02323.						cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGAGGAGCTGGTCTGGAGA	0.612000														11			5		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38163216	38163216	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:38163216G>A	uc003chp.1	+	34	4985	c.4964G>A	c.(4963-4965)cGg>cAg	p.R1655Q	DLEC1_uc003cho.1_Missense_Mutation_p.R1655Q|DLEC1_uc010hgv.1_Missense_Mutation_p.R1658Q|DLEC1_uc003chr.1_Missense_Mutation_p.R726Q|DLEC1_uc003chs.1_Missense_Mutation_p.R212Q	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1655					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CAGCGAGTCCGGGAGGTCTAC	0.632000														37			14		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862259	5862259	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:5862259G>A	uc010qzq.2	-	0	869	c.869C>T	c.(868-870)cCt>cTt	p.P290L	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P289S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGATTACAGGATTGAGGGT	0.413000														24			31		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69692192	69692192	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:69692192G>A	uc003hee.3	+	3	1089	c.1064G>A	c.(1063-1065)tGg>tAg	p.W355*	UGT2B10_uc011cam.2_Nonsense_Mutation_p.W271*	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	355					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CTGTACAAGTGGATACCCCAG	0.393000														33			38		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203591027	203591027	+	Nonsense_Mutation	SNP	C	T	T	rs61740247		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:203591027C>T	uc010zhx.2	+	3	911	c.901C>T	c.(901-903)Cga>Tga	p.R301*		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	301										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCGGCATCATCGAGATAAAGA	0.403000														66			17		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415789	86415789	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:86415789C>T	uc003uid.3	+	2	1780	c.681C>T	c.(679-681)atC>atT	p.I227I	GRM3_uc010lef.3_Silent_p.I225I|GRM3_uc010leg.3_Silent_p.I99I|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	227					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGACAGGGATCGAGGCCTTCG	0.597000														67			50		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183522201	183522201	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:183522201G>A	uc003ivd.1	+	2	711	c.636G>A	c.(634-636)agG>agA	p.R212R	ODZ3_uc021xux.1_Silent_p.R119R	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	212	Teneurin N-terminal.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCAATAGAAGGAACCAGAGTC	0.587000														48			47		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20871992	20871992	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:20871992G>A	uc001vxe.3	-	5	1124	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	362	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATGGCAGTACGGAGACAGGCG	0.582000														87			40		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060344	16060344	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:16060344A>C	uc010xov.2	+	0	527	c.527A>C	c.(526-528)cAc>cCc	p.H176P		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						AATGTGATCCACCATTTTTTC	0.498000														118			42		0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182871567	182871567	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:182871567G>A	uc003flh.4	-	1	886	c.662C>T	c.(661-663)tCg>tTg	p.S221L		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	221					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTTGACTGACGATGGCTGAGG	0.547000														89			47		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165173242	165173242	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:165173242C>T	uc001gcz.2	-	8	1218	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	LMX1A_uc021pdz.1_Missense_Mutation_p.D342N|LMX1A_uc021pdy.1_Missense_Mutation_p.D93N|LMX1A_uc001gcw.2_Missense_Mutation_p.D60N	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	342						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D342N(2)|p.D341N(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGGGAGGTGTCGTCGCTATCC	0.512000														77			30		0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87016468	87016468	+	Silent	SNP	A	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:87016468A>C	uc002srt.3	-	3	1492	c.603T>G	c.(601-603)gtT>gtG	p.V201V	RMND5A_uc002srs.4_Intron|CD8A_uc002srv.3_Silent_p.V201V|CD8A_uc010ytn.2_Silent_p.V242V|CD8A_uc002sru.3_Intron	NM_001768	NP_001759	P01732	CD8A_HUMAN	Homo sapiens CD8a molecule (CD8A), transcript variant 1, mRNA.	201					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						AAAGGGTGATAACCAGTGACA	0.617000														58			25		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90280815	90280815	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:90280815T>A	uc002boj.3	+	14	1721	c.1620T>A	c.(1618-1620)ttT>ttA	p.F540L	WDR93_uc010bnr.3_Missense_Mutation_p.F512L|WDR93_uc010upz.2_Missense_Mutation_p.F257L	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	540					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGCTCATCTTTTCCAAGAATG	0.552000														89			62		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191876	66191876	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:66191876C>T	uc001ohx.1	+	6	1691	c.1515C>T	c.(1513-1515)acC>acT	p.T505T	NPAS4_uc010rpc.1_Silent_p.T295T	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	505					transcription, DNA-dependent		DNA binding|signal transducer activity	p.T505I(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTCCCTGCACCTCCACCTTCC	0.587000														171			116		0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150789286	150789286	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:150789286G>A	uc001evr.2	-	17	1981	c.1780C>T	c.(1780-1782)Ccc>Tcc	p.P594S	ARNT_uc010pck.2_Missense_Mutation_p.P83S|ARNT_uc001evs.2_Missense_Mutation_p.P579S|ARNT_uc009wmd.2_Missense_Mutation_p.P579S|ARNT_uc009wmb.2_Missense_Mutation_p.P580S|ARNT_uc009wmc.2_Missense_Mutation_p.P594S	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	594					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCGGCCGGGGGGTAGGAGGG	0.527000			T	ETV6	AML									105			27		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70926736	70926736	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:70926736C>T	uc003pfg.4	-	37	2789	c.2630G>A	c.(2629-2631)cGa>cAa	p.R877Q	COL9A1_uc003pfe.4_Missense_Mutation_p.R426Q|COL9A1_uc003pff.4_Missense_Mutation_p.R634Q	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	877	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGGGGGCCTCGCTCACCGTC	0.607000														12			20		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40395860	40395860	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:40395860T>G	uc002omp.4	-	14	7545	c.7537A>C	c.(7537-7539)Acg>Ccg	p.T2513P		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2513	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCTGGACCGTGATCACCCTG	0.652000														107			18		0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35523450	35523450	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:35523450G>A	uc002nxo.2	+	1	192	c.59G>A	c.(58-60)gGc>gAc	p.G20D	SCN1B_uc002nxp.3_Missense_Mutation_p.G20D|SCN1B_uc010xsg.2_Missense_Mutation_p.G20D	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.	20					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	p.G19R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCTGCGGGGGCTGCGTGGAG	0.607000														55			31		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50857568	50857568	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:50857568G>A	uc001jhz.2	+	9	1550	c.1397G>A	c.(1396-1398)aGg>aAg	p.R466K	CHAT_uc001jhv.1_Missense_Mutation_p.R348K|CHAT_uc001jhx.1_Missense_Mutation_p.R348K|CHAT_uc001jhy.1_Missense_Mutation_p.R348K|CHAT_uc001jia.2_Missense_Mutation_p.R384K|CHAT_uc010qgs.1_Missense_Mutation_p.R348K	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	466					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CAGAGCAGCAGGAAGCTGATC	0.622000														43			21		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666799	11666799	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:11666799G>A	uc002gne.3	+	35	7106	c.7038G>A	c.(7036-7038)caG>caA	p.Q2346Q	DNAH9_uc010coo.3_Silent_p.Q1640Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2346					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCATGGTTCAGATGGTGTGTC	0.483000														40			54		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181104	57181105	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:57181104_57181105CC>TT	uc003hbk.2	+	7	1827_1828	c.1436_1437CC>TT	c.(1435-1437)ccc>cTT	p.P479L	KIAA1211_uc010iha.2_Missense_Mutation_p.P472L|KIAA1211_uc011bzz.1_Missense_Mutation_p.P389L|KIAA1211_uc003hbm.1_Missense_Mutation_p.P365L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	479	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGTCCTGGGCCCGAGGAAAAGA	0.653000														1			3		0	0	1	0	0
GMCL1P1	64396	broad.mit.edu	37	5	177612955	177612955	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:177612955C>T	uc003mit.1	-	0	1479	c.1346G>A	c.(1345-1347)cGa>cAa	p.R449Q						Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA.																		TATGCTCCTTCGAGGCCGTAA	0.393000														36			11		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890185	139890185	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:139890185C>T	uc003yvd.3	-	2	913	c.466G>A	c.(466-468)Gac>Aac	p.D156N		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	156	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.D156E(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCACCAGGTCCTGGCTGCGG	0.721000										HNSCC(7;0.00092)				8			5		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178634626	178634626	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:178634626T>C	uc003mjw.3	-	3	881	c.779A>G	c.(778-780)cAt>cGt	p.H260R	ADAMTS2_uc011dgm.2_Missense_Mutation_p.H260R	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	260					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTCCGCAGCATGCCTGCGTGC	0.642000														89			52		0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4298091	4298091	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:4298091C>T	uc002lzx.2	-	1	344	c.298G>A	c.(298-300)Gac>Aac	p.D100N	TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Missense_Mutation_p.D100N	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	100	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACAGGGTCCAGCTGCAGG	0.637000														28			61		0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817427	23817427	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:23817427C>A	uc001wjl.3	-	4	1018	c.781G>T	c.(781-783)Gag>Tag	p.E261*	SLC22A17_uc010akk.3_Nonsense_Mutation_p.E43*|SLC22A17_uc001wjm.3_Nonsense_Mutation_p.E261*|SLC22A17_uc001wjn.3_Non-coding_Transcript	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	261					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CGGTTTCGCTCAGCCAGGATC	0.632000														53			35		8.73648e-17	8.84787e-17	1	1	0
LRP12	29967	broad.mit.edu	37	8	105509456	105509456	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:105509456C>T	uc003yma.3	-	4	1451	c.1324G>A	c.(1324-1326)Ggc>Agc	p.G442S	LRP12_uc003ymb.3_Missense_Mutation_p.G423S|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	442	LDL-receptor class A 4.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCATCTGAGCCATTTGGGCAA	0.403000														80			42		0	0	1	0	0
CDRT15P1	94158	broad.mit.edu	37	17	13927886	13927886	+	RNA	SNP	G	A	A	rs11649821	by1000genomes	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:13927886G>A	uc002god.1	+	0		c.72G>A								Homo sapiens CMT1A duplicated region transcript 15 pseudogene 1 (CDRT15P1), non-coding RNA.																		AACGGAGGGAGTGAGAGCCTT	0.562000														35			4		0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42800254	42800254	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:42800254C>T	uc002ihf.3	+	2	302	c.89C>T	c.(88-90)tCc>tTc	p.S30F	DBF4B_uc002ihd.2_Missense_Mutation_p.S30F|DBF4B_uc010wjb.1_Non-coding_Transcript|DBF4B_uc002ihe.3_5'UTR|DBF4B_uc010wjc.2_Missense_Mutation_p.S30F|DBF4B_uc002ihg.3_Missense_Mutation_p.S14F	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	30					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CTAGGAGTTTCCAGGTGTCTA	0.468000														74			31		0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132129	42132129	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:42132129G>A	uc010xwd.1	-	1	381	c.270C>T	c.(268-270)atC>atT	p.I90I	CEACAM4_uc002orh.1_Silent_p.I90I	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	90	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CGGCCCCTGGGATATTTGCTT	0.478000														141			33		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28224012	28224012	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:28224012C>T	uc009xky.3	-	15	2520	c.2422G>A	c.(2422-2424)Gga>Aga	p.G808R	ARMC4_uc010qds.2_Missense_Mutation_p.G333R|ARMC4_uc010qdt.2_Missense_Mutation_p.G500R|ARMC4_uc001itz.3_Missense_Mutation_p.G808R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	808							binding	p.G808R(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGGTTTATTCCAACAAGGAGG	0.458000														115			50		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919887	12919887	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:12919887G>T	uc001aum.1	+	2	714	c.627G>T	c.(625-627)gaG>gaT	p.E209D		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	209										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTATTGGGGAGCTGGAAATTC	0.383000														161			77		9.12251e-31	9.34092e-31	1	1	0
ELP3	55140	broad.mit.edu	37	8	27989810	27989810	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:27989810G>A	uc003xgo.4	+	8	943	c.795G>A	c.(793-795)aaG>aaA	p.K265K	ELP3_uc003xgn.4_Silent_p.K250K|ELP3_uc011las.2_Silent_p.K146K|ELP3_uc011lat.2_Silent_p.K146K|ELP3_uc011laq.2_Silent_p.K193K|ELP3_uc011lar.2_Silent_p.K173K	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	265				K -> M (in Ref. 1; BAB14138).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		ACACTGTGAAGGCAGTGTGTG	0.433000														29			15		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219602568	219602568	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:219602568A>G	uc002viy.3	+	2	539	c.169A>G	c.(169-171)Aag>Gag	p.K57E	TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.3_Missense_Mutation_p.K57E	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	57					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GAAGCTGGAAAAGAAGCAAGT	0.582000														80			16		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39781267	39781267	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:39781267C>T	uc021olt.1	+	25	3420	c.3368C>T	c.(3367-3369)cCa>cTa	p.P1123L	MACF1_uc021ols.1_Missense_Mutation_p.P1123L|MACF1_uc001cdc.2_Missense_Mutation_p.P1123L|MACF1_uc001cda.1_Missense_Mutation_p.P1031L|MACF1_uc009vvq.1_Missense_Mutation_p.P180L|MACF1_uc001cdb.1_Missense_Mutation_p.P210L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1123	Poly-Ser.				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)			CATCAGTCTCCATCTAGTTCA	0.458000														67			39		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262038	1262038	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:1262038C>T	uc002cks.3	+	24	4907	c.4659C>T	c.(4657-4659)gtC>gtT	p.V1553V	CACNA1H_uc002ckt.3_Silent_p.V1553V|CACNA1H_uc002cku.3_Silent_p.V259V|CACNA1H_uc010brj.3_Silent_p.V259V|CACNA1H_uc002ckv.3_Silent_p.V259V	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1553					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCGTGGGCGTCGTGGTCGAGA	0.627000														132			59		0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5461845	5461845	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:5461845C>T	uc010qze.2	-	0	939	c.900G>A	c.(898-900)gaG>gaA	p.E300E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E300D(2)|p.E300*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTGCGGATCTCCTTGGTTT	0.473000														40			32		0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520822	129520822	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:129520822T>C	uc003kvd.3	+	2	1987	c.1987T>C	c.(1987-1989)Tct>Cct	p.S663P		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	663						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAGTAGGGATTCTGGCCAAGA	0.408000														68			38		0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88039902	88039902	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:88039902G>A	uc003dqr.2	+	1	161	c.3G>A	c.(1-3)atG>atA	p.M1I	HTR1F_uc021xbd.1_Missense_Mutation_p.M1I	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	1					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CAAAGAAAATGGATTTCTTAA	0.368000														62			22		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1083069	1083069	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:1083069G>A	uc001lsx.1	+	15	1996	c.1969G>A	c.(1969-1971)Gat>Aat	p.D657N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	657						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGCAGACAAGGATGTGGGCTC	0.662000														8			3		0	0	1	0	0
C20orf3	57136	broad.mit.edu	37	20	24959419	24959419	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:24959419G>A	uc002wtz.3	-	2	413	c.312C>T	c.(310-312)tcC>tcT	p.S104S	C20orf3_uc002wty.3_Silent_p.S104S|C20orf3_uc010zsw.2_Silent_p.S104S	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	Homo sapiens chromosome 20 open reading frame 3 (C20orf3), mRNA.	104					biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)	21						TATGTGCTATGGACTCCGGTC	0.552000														37			45		0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255117	30255117	+	Splice_Site	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:30255117G>A	uc001msl.3	+	3	229	c.160_splice	c.e3-1	p.D54_splice	FSHB_uc001msm.3_Splice_Site_p.D54_splice|FSHB_uc001msn.3_Splice_Site_p.D54_splice	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	54					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	AACTCCTCAGGATCTGGTGTA	0.428000														21			12		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328320	3328320	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:3328320C>T	uc001akf.3	+	8	1641	c.1559C>T	c.(1558-1560)cCa>cTa	p.P520L	PRDM16_uc001ake.3_Missense_Mutation_p.P520L|PRDM16_uc009vlh.3_Missense_Mutation_p.P221L|PRDM16_uc001akc.3_Missense_Mutation_p.P520L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	520	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ATCTTCCCTCCATCCTTGTAC	0.687000			T	EVI1	"""MDS, AML"""									107			49		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10874853	10874853	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:10874853G>A	uc003mzn.4	-	4	968	c.896C>T	c.(895-897)cCt>cTt	p.P299L	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	299					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGTGTCATTAGGGATACTGGT	0.423000														177			109		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600221	29600221	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:29600221G>A	uc001usl.4	+	0	1474	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	462						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGGCAGTGGGAATAAGGACA	0.502000														41			17		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104190802	104190802	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:104190802C>T	uc004bbk.2	-	3	410	c.328G>A	c.(328-330)Gac>Aac	p.D110N		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	110					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CCTCCTTGGTCTAACTGTGGA	0.403000														69			42		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116048750	116048750	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:116048750G>A	uc001lbl.1	+	11	1945	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	VWA2_uc001lbk.1_Missense_Mutation_p.V542I|VWA2_uc009xyf.1_Missense_Mutation_p.V238I	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	542	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CTCTGCCTCAGTAGGGCCCGA	0.577000														27			23		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639546	7639546	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:7639546G>A	uc001qsz.3	-	8	2215	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	CD163_uc001qta.3_Missense_Mutation_p.S696L|CD163_uc009zfw.2_Missense_Mutation_p.S729L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	696					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.S696L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCCAAAGACGATGAATTGCA	0.438000														53			25		0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40705264	40705264	+	Silent	SNP	T	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:40705264T>G	uc001cfc.4	+	7	4921	c.4890T>G	c.(4888-4890)ggT>ggG	p.G1630G	RLF_uc001cfd.4_Silent_p.G1321G	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1630					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATTCCCCGGGTGACAGTAGTG	0.463000														54			21		0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99101873	99101874	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:99101873_99101874GG>AA	uc003yih.1	+	1	776_777	c.628_629GG>AA	c.(628-630)gga>AAa	p.G210K	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	210										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GGGCACAGTGGGAAAGGATGAG	0.465000														39			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641459	179641459	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:179641459G>A	uc021vsy.1	-	27	5357	c.5132C>T	c.(5131-5133)tCc>tTc	p.S1711F	TTN_uc021vsz.1_Missense_Mutation_p.S1665F|TTN_uc021vta.1_Missense_Mutation_p.S1665F|TTN_uc021vtb.1_Missense_Mutation_p.S1665F|TTN_uc002unb.2_Missense_Mutation_p.S1711F|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1711	Ig-like 8.						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)			AAGTCTTAAGGAAGTGAGTTT	0.473000														34			14		0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190922148	190922148	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:190922148G>A	uc002urp.3	-	2	1097	c.964C>T	c.(964-966)Cct>Tct	p.P322S		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	322					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.P322L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TGAGTATGAGGATATTTTTGT	0.393000														42			23		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450870	55450870	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55450870C>T	uc002qih.4	-	3	1393	c.1317G>A	c.(1315-1317)ggG>ggA	p.G439G	NLRP7_uc010esk.3_Silent_p.G439G|NLRP7_uc002qig.4_Silent_p.G439G|NLRP7_uc002qii.4_Silent_p.G439G|NLRP7_uc010esl.3_Silent_p.G467G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	439	NACHT.						ATP binding	p.G439W(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACTCCTGCACCCCGAGCCTTT	0.662000														29			15		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769414	57769414	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:57769414C>T	uc002yan.3	+	0	3340	c.3340C>T	c.(3340-3342)Cct>Tct	p.P1114S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1114						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCAGAAGATCCTTCTTCAGG	0.672000														33			56		0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70703013	70703013	+	Splice_Site	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:70703013G>A	uc001jou.3	+	14	2042	c.1935_splice	c.e14+1	p.Q645_splice		NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	645						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAAGGTTACAGGTATTTTTAA	0.294000														42			16		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087124	39087124	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr21:39087124C>T	uc011aej.1	-	2	389	c.336G>A	c.(334-336)tgG>tgA	p.W112*	KCNJ6_uc002ywo.2_Nonsense_Mutation_p.W112*	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	112					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATGCGATCAACCACCAGATCA	0.448000														185			70		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69002868	69002868	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:69002868A>C	uc003xxv.1	+	19	2195	c.2168A>C	c.(2167-2169)aAt>aCt	p.N723T	PREX2_uc003xxu.1_Missense_Mutation_p.N723T|PREX2_uc011lez.1_Missense_Mutation_p.N658T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	723	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATCAAGGTGAATGGAATCAAT	0.448000														52			23		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113233760	113233760	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:113233760G>A	uc010mtz.3	-	15	3219	c.2882C>T	c.(2881-2883)cCc>cTc	p.P961L	SVEP1_uc010mua.1_Missense_Mutation_p.P961L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	961					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAATACATGGGGTCTTTGTT	0.413000														30			7		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57489238	57489238	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:57489238A>T	uc009vzx.1	-	10	1181	c.861T>A	c.(859-861)agT>agA	p.S287R	DAB1_uc001cyt.1_Missense_Mutation_p.S285R|DAB1_uc001cyq.1_Missense_Mutation_p.S285R|DAB1_uc001cyr.1_Missense_Mutation_p.S201R|DAB1_uc009vzw.1_Missense_Mutation_p.S269R|DAB1_uc001cys.1_Missense_Mutation_p.S287R	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	320					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AAGGTACAGAACTAAACACAT	0.512000														13			7		0	0	1	0	0
KLHL28	54813	broad.mit.edu	37	14	45414960	45414960	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:45414960G>A	uc001wvq.3	-	1	418	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	KLHL28_uc001wvr.3_Missense_Mutation_p.P58S|KLHL28_uc001wvt.4_Missense_Mutation_p.P58S	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	58	BTB.									breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTGAAATACGGGCTGACGCTG	0.428000														69			39		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49762735	49762735	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:49762735G>A	uc001vcm.3	+	16	2215	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	FNDC3A_uc001vcn.3_Missense_Mutation_p.R637Q|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.R563Q|FNDC3A_uc001vcq.3_Missense_Mutation_p.R581Q	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	637	Fibronectin type-III 4.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TATCGTTTACGAGTTTACTGC	0.413000														178			52		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138672022	138672022	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:138672022C>T	uc011mwn.1	-	22	2783	c.2777G>A	c.(2776-2778)gGt>gAt	p.G926D	MCF2_uc004fav.3_Missense_Mutation_p.G797D|MCF2_uc004fau.3_Missense_Mutation_p.G781D|MCF2_uc010nsh.2_Missense_Mutation_p.G781D|MCF2_uc011mwm.2_Missense_Mutation_p.G742D|MCF2_uc011mwl.2_Missense_Mutation_p.G758D|MCF2_uc011mwo.1_Missense_Mutation_p.G857D|MCF2_uc004faw.2_Missense_Mutation_p.G841D	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	781					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTCCTTTTCACCATACCAGAT	0.313000														14			34		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91628400	91628400	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:91628400C>T	uc004aqf.2	-	11	2054	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	583	SH2.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGACACAGCTCACTCCCTGCA	0.557000														39			35		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39247098	39247098	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:39247098G>A	uc003thb.2	+	4	533	c.390G>A	c.(388-390)caG>caA	p.Q130Q	POU6F2_uc022acb.1_Silent_p.Q130Q|POU6F2_uc010kxo.3_Silent_p.Q122Q	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	130					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGCGGGACAGCTAGGAGGCC	0.607000														134			45		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346845	48346845	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:48346845C>T	uc010rhv.2	+	0	353	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AGAACCATCTCTTATGAGTGC	0.438000														243			13		0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35485075	35485075	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:35485075G>A	uc001byh.3	-	3	535	c.307C>T	c.(307-309)Caa>Taa	p.Q103*	ZMYM6_uc001byf.1_Nonsense_Mutation_p.Q103*|ZMYM6_uc010oht.2_Nonsense_Mutation_p.Q6*|ZMYM6_uc009vup.3_Intron|ZMYM6_uc009vuq.1_Nonsense_Mutation_p.Q103*|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byi.2_Nonsense_Mutation_p.Q103*|ZMYM6_uc001byj.2_Nonsense_Mutation_p.Q103*|ZMYM6_uc001byk.2_Nonsense_Mutation_p.Q103*	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	103					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TATGCAGTTTGGCCCTTATAA	0.448000														78			26		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214209143	214209143	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:214209143C>T	uc001hkh.3	+	4	2452	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	727	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ATTTTCAAATCCCCGAACTGC	0.423000														31			55		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431966	56431966	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:56431966G>A	uc010rjm.2	+	0	805	c.805G>A	c.(805-807)Gac>Aac	p.D269N	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CTACTCCCTGGACCAAGACAA	0.488000														47			35		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	441409	441409	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:441409G>A	uc003zgf.2	+	40	5459	c.5347G>A	c.(5347-5349)Gtt>Att	p.V1783I	DOCK8_uc022bcu.1_Missense_Mutation_p.V1715I|DOCK8_uc010mgv.3_Missense_Mutation_p.V1683I|DOCK8_uc010mgu.3_Missense_Mutation_p.V1085I|DOCK8_uc003zgk.2_Missense_Mutation_p.V1241I	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1783	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CGACAGCATCGTTAACAAGGT	0.567000														46			19		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170127610	170127610	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:170127610C>T	uc002ues.3	-	15	2337	c.2124G>A	c.(2122-2124)caG>caA	p.Q708Q	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	708					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			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)	TGAGGAAATTCTGAACAGCTG	0.438000														15			11		0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179816679	179816679	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:179816679A>C	uc001gnl.3	-	5	1460	c.646T>G	c.(646-648)Tgg>Ggg	p.W216G	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.W216G	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	216						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CCATAGCTCCAAAAACCCTTT	0.378000														49			23		0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1562489	1562489	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:1562489C>G	uc001agg.3	+	10	1666	c.1621C>G	c.(1621-1623)Cag>Gag	p.Q541E	MIB2_uc001agh.3_Missense_Mutation_p.Q527E|MIB2_uc001agi.3_Missense_Mutation_p.Q537E|MIB2_uc001agj.3_Missense_Mutation_p.Q325E|MIB2_uc001agk.3_Missense_Mutation_p.Q476E|MIB2_uc001agl.2_Missense_Mutation_p.Q440E|MIB2_uc001agm.3_Missense_Mutation_p.Q361E|MIB2_uc010nyq.2_Missense_Mutation_p.Q440E|MIB2_uc009vkh.3_Missense_Mutation_p.Q290E|MIB2_uc001agn.3_Missense_Mutation_p.Q116E|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	484					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTTCGGGCCCAGAAGAGTGA	0.706000														13			3		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81613796	81613796	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:81613796G>A	uc001szl.1	+	10	1546	c.1455G>A	c.(1453-1455)atG>atA	p.M485I	ACSS3_uc001szm.1_Missense_Mutation_p.M484I|ACSS3_uc001szn.1_Missense_Mutation_p.M167I	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	485						mitochondrion	ATP binding|acetate-CoA ligase activity	p.M485V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTGTAGTTATGATTTTGGATG	0.254000														49			22		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31537312	31537312	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:31537312A>C	uc010dmi.3	-	7	1704	c.1406T>G	c.(1405-1407)aTg>aGg	p.M469R	NOL4_uc010xbs.2_Missense_Mutation_p.M184R|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Missense_Mutation_p.M395R|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	469						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ACTTCTTTTCATCCGCCTGCA	0.423000														48			18		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50893056	50893056	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:50893056G>A	uc003blh.3	-	35	5123	c.4928C>T	c.(4927-4929)cCc>cTc	p.P1643L	SBF1_uc003ble.3_Missense_Mutation_p.P107L|SBF1_uc011arx.2_Missense_Mutation_p.P1281L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1617					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TTCCTCTGGGGGTTCAGGGGG	0.667000														67			33		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45800590	45800590	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:45800590G>A	uc011bai.2	-	10	1783	c.1659C>T	c.(1657-1659)gcC>gcT	p.A553A	SLC6A20_uc003cow.3_Silent_p.A203A|SLC6A20_uc011baj.2_Silent_p.A516A	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	553					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCAGTGCATAGGCCGGGTAAT	0.632000														40			18		0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62885866	62885866	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:62885866A>C	uc004dvl.2	-	6	1795	c.956T>G	c.(955-957)cTg>cGg	p.L319R	ARHGEF9_uc011mos.1_Missense_Mutation_p.L298R|ARHGEF9_uc004dvk.1_Intron|ARHGEF9_uc004dvm.1_Missense_Mutation_p.L298R|ARHGEF9_uc004dvj.2_Missense_Mutation_p.L217R|ARHGEF9_uc011mot.2_Missense_Mutation_p.L266R|ARHGEF9_uc004dvn.3_Missense_Mutation_p.L326R	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	319	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AGTGTAGATCAGCTCCGAGCT	0.592000														15			23		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150498808	150498808	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:150498808C>T	uc003whx.1	+	1	248	c.170C>T	c.(169-171)tCg>tTg	p.S57L	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	57						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGTGGCCTCGTGGGTGAGT	0.716000														13			7		0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197656111	197656111	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:197656111C>T	uc002uts.3	-	3	642	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	GTF3C3_uc010zgu.2_Missense_Mutation_p.R162Q|GTF3C3_uc002utu.3_Missense_Mutation_p.R162Q	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	162						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACGTTCTCCTCGAGCAAAACG	0.418000														48			37		0	0	1	0	0
PTF1A	256297	broad.mit.edu	37	10	23482639	23482639	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:23482639C>T	uc001irp.3	+	1	791	c.791C>T	c.(790-792)cCc>cTc	p.P264L		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA.	264					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCAGGGTCCCCCTCCCCCAGC	0.507000														188			88		0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005380	101005380	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:101005380C>T	uc010txa.2	-	5	854	c.708G>A	c.(706-708)ccG>ccA	p.P236P	BEGAIN_uc001yhp.3_Silent_p.P172P|BEGAIN_uc001yhq.3_Silent_p.P236P	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	236						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCTCCTCCGGGCAGTAGA	0.716000														16			8		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999314	72999314	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:72999314A>G	uc002lly.3	+	1	2380	c.1817A>G	c.(1816-1818)aAc>aGc	p.N606S	TSHZ1_uc021uln.1_Missense_Mutation_p.N606S	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	651						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N606S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCAAGGTCAACATCAAGAAG	0.587000														41			22		0	0	1	0	0
ACOT4	122970	broad.mit.edu	37	14	74060573	74060573	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:74060573G>A	uc001xoo.3	+	1	879	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	209					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GGAGTACTTCGAAGAAGCCGT	0.433000														88			22		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71389811	71389811	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:71389811C>T	uc010dfm.3	-	26	3786	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	SDK2_uc002jjt.4_Silent_p.Q421Q|SDK2_uc010dfn.2_Silent_p.Q941Q	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1262	Fibronectin type-III 7.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGCCGGTGAGCTGGGCACTGC	0.627000														35			25		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409762	79409762	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:79409762C>T	uc002kaf.2	+	3	1201	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	463							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GGCCCTCAACCCCCGGCTAAA	0.667000														13			9		0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62568807	62568807	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:62568807G>A	uc001nvf.1	-	7	928	c.792C>T	c.(790-792)atC>atT	p.I264I	NXF1_uc001nvg.1_Silent_p.I264I|NXF1_uc009yog.1_Silent_p.I307I|NXF1_uc010rmh.1_Silent_p.I127I	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA.	264	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTACCTCAGGGATGTTCTCTT	0.517000														32			12		0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687310	21687310	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:21687310C>T	uc002wsj.2	+	1	575	c.521C>T	c.(520-522)aCt>aTt	p.T174I	PAX1_uc010zsl.2_Missense_Mutation_p.T174I|PAX1_uc010zsm.2_Missense_Mutation_p.T150I	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	174	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGCGTCACCACTCCCAACGTG	0.662000														57			61		0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74473797	74473797	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:74473797C>T	uc002axj.3	-	16	2000	c.1640G>A	c.(1639-1641)cGa>cAa	p.R547Q	STRA6_uc002axi.3_Missense_Mutation_p.R317Q|STRA6_uc010ulh.2_Missense_Mutation_p.R546Q|STRA6_uc002axk.3_Missense_Mutation_p.R508Q|STRA6_uc002axl.3_Missense_Mutation_p.R440Q|STRA6_uc010bji.3_Missense_Mutation_p.R508Q|STRA6_uc021sqg.1_Missense_Mutation_p.R523Q|STRA6_uc002axm.3_Missense_Mutation_p.R508Q|STRA6_uc002axn.3_Missense_Mutation_p.R499Q|STRA6_uc010uli.2_Missense_Mutation_p.R545Q	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	508					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						ATAGAGCACTCGCCTAGGATG	0.592000														16			7		0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72173169	72173169	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:72173169C>T	uc003kck.4	+	8	1063	c.916C>T	c.(916-918)Cct>Tct	p.P306S	TNPO1_uc011csi.1_Non-coding_Transcript|TNPO1_uc011csj.1_Missense_Mutation_p.P256S|TNPO1_uc003kci.4_Missense_Mutation_p.P298S|TNPO1_uc003kcg.4_Missense_Mutation_p.P298S|MIR4804_uc021yal.1_5'Flank	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	306					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAGGCATCTTCCTAAGTAAGT	0.338000														45			22		0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91363837	91363837	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:91363837C>T	uc001tbk.3	-	5	875	c.782G>A	c.(781-783)cGa>cAa	p.R261Q		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	261					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.R261G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GTGAAGGGCTCGTAGATTTTC	0.473000														108			58		0	0	1	0	0
C11orf48	79081	broad.mit.edu	37	11	62430766	62430766	+	Missense_Mutation	SNP	C	T	T	rs144393003		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:62430766C>T	uc001nuf.3	-	5	919	c.703G>A	c.(703-705)Gcg>Acg	p.A235T	METTL12_uc001nug.1_5'Flank|METTL12_uc001nuh.3_5'Flank|SNORA57_uc009yoa.1_5'Flank|METTL12_uc010rmc.1_5'Flank	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN	Homo sapiens chromosome 11 open reading frame 48 (C11orf48), mRNA.	261										endometrium(1)|lung(5)|urinary_tract(1)	7						GTTTTCTGCGCTTCTTCCCTG	0.512000														29			20		0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67567606	67567606	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:67567606G>A	uc001xiy.3	+	11	2293	c.1172G>A	c.(1171-1173)gGg>gAg	p.G391E	GPHN_uc001xix.3_Missense_Mutation_p.G424E|GPHN_uc010tss.2_Missense_Mutation_p.G437E|GPHN_uc010tst.2_Missense_Mutation_p.G360E|GPHN_uc010tsu.2_Missense_Mutation_p.G314E	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	391	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTCATCATTGGGGAATCCCAA	0.448000			T	MLL	AL									35			22		0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45891085	45891085	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:45891085C>T	uc010rgn.2	+	6	996	c.974C>T	c.(973-975)tCc>tTc	p.S325F	CRY2_uc009ykw.3_Missense_Mutation_p.S243F|CRY2_uc010rgo.2_Missense_Mutation_p.S47F	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	304	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CCTCCCCTCTCCCTATTTGGG	0.562000														77			19		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807720	20807720	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:20807720G>A	uc002npb.1	-	3	1113	c.963C>T	c.(961-963)gcC>gcT	p.A321A	ZNF626_uc002npc.1_Silent_p.A245A	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTACTTAAAGGCTTTGTCAC	0.378000														59			38		0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79686870	79686870	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:79686870C>T	uc010wut.2	+	13	1312	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y	SLC25A10_uc002kbi.3_Missense_Mutation_p.H239Y|SLC25A10_uc010dif.3_Missense_Mutation_p.H248Y|SLC25A10_uc010wuu.2_Missense_Mutation_p.H193Y	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	239					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GGGCGTTTTCCACTGCGCCGT	0.612000														235			111		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164341	150164341	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:150164341C>T	uc003whj.3	+	1	885	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	185						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTTGGAGCTCCTTCGCAAGG	0.433000														147			54		0	0	1	0	0
ZWILCH	55055	broad.mit.edu	37	15	66824698	66824698	+	Silent	SNP	T	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:66824698T>C	uc002aqb.3	+	12	1515	c.1269T>C	c.(1267-1269)atT>atC	p.I423I	ZWILCH_uc010bhu.1_Silent_p.I309I|ZWILCH_uc002aqa.3_Silent_p.I309I|ZWILCH_uc010bhv.3_Silent_p.I309I	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA.	423					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TTTTGGAAATTGGTTTGGACA	0.343000														31			22		0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18710534	18710534	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:18710534C>T	uc010ebt.2	-	1	432	c.238G>A	c.(238-240)Ggg>Agg	p.G80R		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	80	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGGCGGCGCCCGTTGAGGGTC	0.682000														7			5		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113302262	113302262	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:113302262G>A	uc021xcn.1	+	6	1405	c.754G>A	c.(754-756)Gat>Aat	p.D252N	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.D252N|SIDT1_uc011big.2_Missense_Mutation_p.D5N	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	252						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GCAGAAGAAGGATTTTCCAGG	0.458000														31			10		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803485	185803485	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:185803485C>T	uc002uph.3	+	3	3956	c.3362C>T	c.(3361-3363)aCc>aTc	p.T1121I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1121						intracellular	zinc ion binding	p.G1120R(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gctgcagGAACCTTTAAAGTG	0.527000														61			36		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128346131	128346131	+	Splice_Site	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:128346131G>A	uc002top.3	+	15	1907	c.1854_splice	c.e15+1	p.K618_splice		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	618	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCTCTTCAAGGTGGGCTCCCA	0.542000														39			21		0	0	1	0	0
ELOVL2	54898	broad.mit.edu	37	6	10990062	10990062	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:10990062G>A	uc003mzp.4	-	6	800	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	213					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TGGTGAGCACGAACTGCACCT	0.547000														69			25		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884910	39884910	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:39884910G>A	uc003axv.4	+	1	1797	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R	MGAT3_uc010gxy.3_Missense_Mutation_p.G520R	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	520					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGGTCCCGAGGGAAGGCCGCC	0.687000														5			6		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	61989096	61989096	+	Silent	SNP	G	A	A	rs140851159		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:61989096G>A	uc003dlb.3	+	3	1163	c.444G>A	c.(442-444)gtG>gtA	p.V148V	PTPRG_uc003dlc.3_Silent_p.V148V	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	148	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTGAGAAGGTGGAATTTCACT	0.493000														62			30		0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435334	56435335	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:56435334_56435335GG>AT	uc002iwf.3	-	7	3758_3759	c.1802_1803CC>AT	c.(1801-1803)tcc>tAT	p.S601Y	RNF43_uc010wnv.2_Missense_Mutation_p.S560Y|RNF43_uc002iwh.4_Missense_Mutation_p.S601Y|RNF43_uc002iwg.4_Missense_Mutation_p.S601Y|RNF43_uc010dcw.3_Missense_Mutation_p.S474Y	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	601	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCTGAGTTGGATCTGGTGAC	0.653000														109			43		0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141328324	141328324	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:141328324C>T	uc010huq.1	+	22	2300	c.2300C>T	c.(2299-2301)tCc>tTc	p.S767F	RASA2_uc003etz.1_Missense_Mutation_p.S763F|RASA2_uc003eua.1_Missense_Mutation_p.S764F	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	763					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGAATTTATTCCCTTTTTACC	0.289000														51			22		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836184	12836184	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:12836184C>T	uc001aui.3	+	1	813	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	262										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTCAGTTCCTCAAGCTGG	0.502000														121			38		0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8787320	8787320	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:8787320C>A	uc003bra.3	+	1	300	c.223C>A	c.(223-225)Ctg>Atg	p.L75M	C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Missense_Mutation_p.L75M	NM_001234	NP_001225	P56539	CAV3_HUMAN	Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.	75	Required for interaction with DAG1.				T-tubule organization|cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization	Golgi membrane|T-tubule|caveola|dystrophin-associated glycoprotein complex|neuromuscular junction	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity	p.L75M(2)		breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GTGCTACCGTCTGTTGTCCAC	0.592000														26			12		7.03913e-09	7.09013e-09	1	1	0
TRPV3	162514	broad.mit.edu	37	17	3448530	3448530	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:3448530G>A	uc002fvr.2	-	2	477	c.155C>T	c.(154-156)cCc>cTc	p.P52L	TRPV3_uc010vrh.1_Missense_Mutation_p.P36L|TRPV3_uc010vri.1_Missense_Mutation_p.P36L|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.P52L|TRPV3_uc010vrj.1_Missense_Mutation_p.P36L|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.P36L|TRPV3_uc002fvu.3_Missense_Mutation_p.P52L	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	52						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGTGGGGTTGGGTTCAAACCC	0.597000														12			22		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21121299	21121299	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:21121299G>A	uc002kum.4	-	14	2618	c.2344C>T	c.(2344-2346)Ctc>Ttc	p.L782F	NPC1_uc010xaz.2_Missense_Mutation_p.L515F|NPC1_uc010xba.1_Missense_Mutation_p.L627F	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	782	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AACCCCAAGAGACTCACGAAA	0.453000														68			24		0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78587109	78587109	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:78587109C>T	uc003kfx.4	+	3	2063	c.1514C>T	c.(1513-1515)gCa>gTa	p.A505V	JMY_uc003kfw.1_Missense_Mutation_p.A151V	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	505	Interaction with p300/EP300 (By similarity).				'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CGGAAACATGCACTAAAGGAA	0.358000														44			21		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500129	90500129	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:90500129C>T	uc004app.4	+	3	762	c.727C>T	c.(727-729)Cct>Tct	p.P243S	FAM75E1_uc004apo.1_Missense_Mutation_p.P55S	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	243	Pro-rich.					integral to membrane											TGTGGTTTTTCCTCCTTCACC	0.617000														67			55		0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9237504	9237504	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:9237504C>T	uc010xkl.2	-	0	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	41					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						TGAGCAGGTTCCCCAGCATTG	0.542000														44			61		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676716	44676716	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:44676716G>A	uc010zxl.1	+	15	2149	c.2073G>A	c.(2071-2073)aaG>aaA	p.K691K	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Silent_p.K668K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	691					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACACACCAAGAACTGGAGGT	0.602000														12			5		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8176611	8176611	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:8176611T>G	uc002mjf.3	-	30	4022	c.4005A>C	c.(4003-4005)agA>agC	p.R1335S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1335	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GACAGTCACCTCTTGGGCTGC	0.632000														22			6		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671770	125671770	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:125671770G>A	uc010flu.3	+	23	4193	c.3829G>A	c.(3829-3831)Gag>Aag	p.E1277K	CNTNAP5_uc002tno.3_Missense_Mutation_p.E1276K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1276					cell adhesion|signal transduction	integral to membrane	receptor binding			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)		CCAGATGAAGGAGAAGGAATA	0.433000														64			27		0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104373722	104373722	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:104373722A>T	uc001tkg.3	+	2	503	c.280A>T	c.(280-282)Aaa>Taa	p.K94*	TDG_uc010swh.1_Nonsense_Mutation_p.K94*|TDG_uc009zuk.3_Nonsense_Mutation_p.K90*|TDG_uc010swi.2_5'UTR|TDG_uc010swj.2_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	94					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		ATCAAAAGAAAAACAAGAAAA	0.348000								Base excision repair (BER), DNA glycosylases						92			7		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43596108	43596108	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:43596108C>T	uc001jal.3	+	1	465	c.275C>T	c.(274-276)aCc>aTc	p.T92I	RET_uc001jak.1_Missense_Mutation_p.T92I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	92					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CAGGAGGACACCGGCCTCCTC	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					17			12		0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16170454	16170454	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:16170454C>T	uc004cxj.3	+	2	1494	c.841C>T	c.(841-843)Cat>Tat	p.H281Y		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	281					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GCTCCCCAATCATGTCATCTA	0.547000														32			72		0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89429874	89429874	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:89429874C>T	uc001pda.3	+	12	1646	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	374					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.P374P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTAGGGTTACCAGACAGACC	0.294000														19			16		0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41063317	41063317	+	Silent	SNP	C	T	T	rs137978566	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:41063317C>T	uc002icb.1	+	4	1027	c.948C>T	c.(946-948)tcC>tcT	p.S316S	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	316					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AACCCCCATCCCAAGTCGAGC	0.587000														146			59		0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223507637	223507637	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:223507637G>A	uc010zlq.1	-	3	297	c.262C>T	c.(262-264)Cct>Tct	p.P88S	FARSB_uc002vne.1_Missense_Mutation_p.P68S|FARSB_uc002vnf.1_5'UTR	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA.	68					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	CTATTGGCAGGGACGTCAATT	0.388000														33			21		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156766193	156766193	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:156766193C>T	uc021ygm.1	+	21	2649	c.2511C>T	c.(2509-2511)atC>atT	p.I837I	CYFIP2_uc011ddn.2_Silent_p.I812I|CYFIP2_uc011ddo.2_Silent_p.I642I|CYFIP2_uc021ygn.1_Silent_p.I837I|CYFIP2_uc021ygo.1_Silent_p.I837I|CYFIP2_uc003lwt.3_Silent_p.I741I|CYFIP2_uc011ddp.2_Silent_p.I572I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	863					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGGCCGTATCACCCTGCATG	0.562000														56			23		0	0	1	0	0
MKRN7P	7686	broad.mit.edu	37	20	45092571	45092571	+	RNA	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:45092571G>A	uc010zxt.2	-	0		c.1361C>T								Homo sapiens makorin ring finger protein 7, pseudogene (MKRN7P), non-coding RNA.																		GATCATCATGGAACAAGTCCC	0.493000														9			11		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651311	90651311	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:90651311G>A	uc001xye.1	+	1	1633	c.1191G>A	c.(1189-1191)atG>atA	p.M397I		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	397						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGCAATCATGAACAACAGGT	0.592000														21			13		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684339	75684339	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:75684339G>A	uc010oqz.1	-	15	1548	c.1482C>T	c.(1480-1482)acC>acT	p.T494T	SLC44A5_uc001dgt.2_Silent_p.T455T|SLC44A5_uc001dgs.2_Silent_p.T413T|SLC44A5_uc001dgr.2_Silent_p.T413T|SLC44A5_uc001dgu.3_Silent_p.T455T|SLC44A5_uc010ora.2_Silent_p.T449T|SLC44A5_uc010orb.2_Silent_p.T325T	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	455						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.D494Y(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATACATGGAAGGTAGGGATGT	0.423000														70			55		0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47143405	47143405	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:47143405G>A	uc002eer.2	-	6	1285	c.872C>T	c.(871-873)tCc>tTc	p.S291F	NETO2_uc002eeq.2_Missense_Mutation_p.S64F|NETO2_uc010vgf.2_Missense_Mutation_p.S284F	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	291	CUB 2.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CTCCACAAAGGAAGTAAAGAG	0.353000										HNSCC(25;0.065)				17			25		0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723511	48723511	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:48723511G>A	uc001rrm.3	+	0	749	c.437G>A	c.(436-438)aGg>aAg	p.R146K		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	146	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GCTCCCTGGAGGACCCCAGCC	0.716000														12			5		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445417	150445417	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:150445417C>T	uc009wlr.3	+	10	4194	c.3993C>T	c.(3991-3993)ctC>ctT	p.L1331L	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Silent_p.L1305L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1331	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATAGTTCCCTCCTTCAAGGGA	0.632000														43			12		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168849246	168849246	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:168849246G>A	uc011bpj.1	-	3	987	c.584C>T	c.(583-585)cCc>cTc	p.P195L	MECOM_uc010hwk.1_Missense_Mutation_p.P30L|MECOM_uc003ffj.3_Missense_Mutation_p.P71L|MECOM_uc003ffi.3_Missense_Mutation_p.P7L|MECOM_uc011bpi.1_Missense_Mutation_p.P7L|MECOM_uc003ffn.3_Missense_Mutation_p.P7L|MECOM_uc003ffk.2_Missense_Mutation_p.P7L|MECOM_uc003ffl.2_Missense_Mutation_p.P167L|MECOM_uc011bpk.1_Missense_Mutation_p.P7L|MECOM_uc010hwn.2_Missense_Mutation_p.P195L|MECOM_uc003ffm.1_Missense_Mutation_p.P71L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	102							sequence-specific DNA binding transcription factor activity	p.P7>?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTTTCATGGGGATAGTCTTC	0.463000														32			19		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74475553	74475553	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:74475553C>T	uc002sko.1	-	12	1716	c.1714G>A	c.(1714-1716)Gga>Aga	p.G572R	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G572R|SLC4A5_uc010ffc.1_Missense_Mutation_p.G572R|SLC4A5_uc002skp.1_Missense_Mutation_p.G508R|SLC4A5_uc002sks.1_Missense_Mutation_p.G572R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	572						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGAGGCTGTCCCGAGAAGAGG	0.577000														34			4		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138732434	138732434	+	Missense_Mutation	SNP	G	A	A	rs141924548	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:138732434G>A	uc003vun.3	-	12	3003	c.2615C>T	c.(2614-2616)tCg>tTg	p.S872L		NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	872	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GGAGGGATTCGATCTGGTATC	0.423000														101			94		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110030288	110030288	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:110030288C>T	uc001dxr.3	+	4	577	c.562C>T	c.(562-564)Cct>Tct	p.P188S	ATXN7L2_uc001dxs.3_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	188										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CATGGCTCCCCCTTCTAAAGA	0.602000														84			46		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399664	47399664	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:47399664C>T	uc001cqp.4	-	8	1227	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	CYP4A11_uc001cqq.2_Silent_p.E392E|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	392					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			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)	GAGTGCTGAGCTCTCTGCCAA	0.582000														31			12		0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95404065	95404065	+	Silent	SNP	G	A	A	rs144225041		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:95404065G>A	uc003ygk.3	-	9	1712	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	RAD54B_uc010may.2_Silent_p.I343I|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.I527I(2)|p.F526F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTCTTCTAAGGATAAAGAGTC	0.368000								Direct reversal of damage;Homologous recombination						86			69		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76382001	76382001	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:76382001G>A	uc021rkq.1	+	9	1917	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.E295K|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.E201K	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	580						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACAGAAGAAAGAAGTGCCGCT	0.448000														97			20		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599728	136599728	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:136599728C>T	uc003qgx.1	-	3	544	c.291G>A	c.(289-291)tgG>tgA	p.W97*	BCLAF1_uc003qgy.1_Nonsense_Mutation_p.W95*|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Nonsense_Mutation_p.W95*|BCLAF1_uc003qgw.1_Nonsense_Mutation_p.W97*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	97					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			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)		GCCTTCTATTCCAGACAGGTC	0.478000														95			34		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105174066	105174066	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:105174066C>T	uc001kwy.1	+	10	1437	c.1350C>T	c.(1348-1350)atC>atT	p.I450I		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	450					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATCATGACATCGAACCTGGGG	0.443000														14			14		0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7843299	7843299	+	Splice_Site	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:7843299A>G	uc001qte.3	-	2	305	c.269_splice	c.e2-1	p.G90_splice		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	90					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAAGAAAGAAACCTAGATGGG	0.388000														30			24		0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	462402	462402	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:462402G>A	uc003jba.3	+	8	1761	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	556					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TTTGCTGGAGGAGGTCTTCCT	0.597000														89			41		0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175311446	175311446	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:175311446G>A	uc002uit.3	-	12	2297	c.1906C>T	c.(1906-1908)Cag>Tag	p.Q636*	GPR155_uc002uiu.3_Nonsense_Mutation_p.Q636*|GPR155_uc002uiv.3_Nonsense_Mutation_p.Q636*|GPR155_uc010fqs.3_Nonsense_Mutation_p.Q608*	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	636					intracellular signal transduction|transmembrane transport	integral to membrane		p.Q636K(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATGCAGCTCTGGGAGTTACAG	0.393000														83			25		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116617101	116617101	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:116617101T>G	uc003yny.3	-	3	1673	c.1095A>C	c.(1093-1095)caA>caC	p.Q365H	TRPS1_uc011lhy.2_Missense_Mutation_p.Q356H|TRPS1_uc003ynz.3_Missense_Mutation_p.Q352H|TRPS1_uc010mcy.3_Missense_Mutation_p.Q352H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	352					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAAGAAAATGTTGTTCTAATT	0.423000									Langer-Giedion syndrome					66			21		0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146086315	146086315	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:146086315G>A	uc003ika.4	-	3	272	c.134C>T	c.(133-135)tCt>tTt	p.S45F	OTUD4_uc021xsl.1_Missense_Mutation_p.S45F	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	110	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GTACATAAGAGAAAGGGCACT	0.308000														20			14		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107083118	107083118	+	Silent	SNP	T	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:107083118T>C	uc001tlt.3	+	6	812	c.672T>C	c.(670-672)acT>acC	p.T224T	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Silent_p.T215T|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Silent_p.T224T|RFX4_uc001tlv.3_Silent_p.T121T	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	215					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TACTGGACACTGTAATAAGAG	0.393000														79			19		0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128332407	128332407	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:128332407C>T	uc010sbs.1	-	7	1491	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	ETS1_uc001qej.2_Missense_Mutation_p.G436D|ETS1_uc009zch.2_Missense_Mutation_p.G176D|ETS1_uc009zcg.2_3'UTR	NM_005238	NP_005229	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.	392					PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GTAGCGTAGGCCACGGCTCAG	0.468000														28			35		0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	470430	470430	+	Nonsense_Mutation	SNP	A	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:470430A>C	uc002wdw.1	-	9	1110	c.717T>G	c.(715-717)taT>taG	p.Y239*	CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.Y239*|CSNK2A1_uc002wdy.1_Nonsense_Mutation_p.Y103*	NM_177559	NP_808228	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	239	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTACCTGATCATAATTGTCAT	0.393000														57			9		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9536216	9536216	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:9536216G>A	uc010coc.3	+	10	1445	c.1216G>A	c.(1216-1218)Ggt>Agt	p.G406S	WDR16_uc002gly.3_Missense_Mutation_p.G396S|WDR16_uc002glz.3_Missense_Mutation_p.G328S			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	396						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGGAACGACGGTAAAATCCG	0.557000														27			39		0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74747158	74747158	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:74747158G>A	uc010yrw.2	-	8	1664	c.1499C>T	c.(1498-1500)gCc>gTc	p.A500V	DQX1_uc002smc.3_Missense_Mutation_p.A61V	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	500						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AAACCCAGGGGCAGCTGGAGG	0.537000														66			13		0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	266289	266289	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:266289C>T	uc021xka.1	-	3	357	c.357G>A	c.(355-357)agG>agA	p.R119R	ZNF732_uc011buu.1_Silent_p.R87R	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TCTGCACCTTCCTTTTACAGC	0.328000														11			5		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505115	47505115	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:47505115C>T	uc001cqt.3	+	7	1234	c.984C>T	c.(982-984)atC>atT	p.I328I	CYP4X1_uc001cqr.3_Silent_p.I327I|CYP4X1_uc001cqs.3_Silent_p.I263I	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	328						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCTCCTGGATCCTTTACTGCC	0.517000														62			27		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170725	113170725	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:113170725G>A	uc010mtz.3	-	37	7492	c.7155C>T	c.(7153-7155)ccC>ccT	p.P2385P	SVEP1_uc010mty.3_Silent_p.P311P	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2385	Sushi 17.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.T2385T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGAAATTAGGGGAGGTGGGG	0.453000														33			15		0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91358079	91358079	+	Missense_Mutation	SNP	C	T	T	rs138857092		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:91358079C>T	uc001tbk.3	-	6	916	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	275					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.E275K(4)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AACGTATCTTCGTGCATTTCC	0.338000														36			16		0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013383	142013383	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:142013383C>T	uc003vxg.3	+	1	267	c.238C>T	c.(238-240)Cga>Tga	p.R80*	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TGAAAGTGTGCGAAGTCGCTT	0.507000														145			109		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100189396	100189396	+	Silent	SNP	G	A	A	rs142866619	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:100189396G>A	uc011kjz.1	+	3	611	c.543G>A	c.(541-543)aaG>aaA	p.K181K	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.K129K|FBXO24_uc003uvm.1_Silent_p.K143K|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Silent_p.K131K	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	143						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCCCACCAAGGATCACGTCT	0.607000														94			66		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915142	39915142	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:39915142C>T	uc010xuz.2	+	18	3694	c.3369C>T	c.(3367-3369)atC>atT	p.I1123I	PLEKHG2_uc010xuy.2_Silent_p.I1064I|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Silent_p.I901I	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1123	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCATCGGATCCCAGCCAACG	0.592000														68			23		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41199882	41199882	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:41199882G>A	uc003jmk.2	-	3	643	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	C6_uc003jml.1_Missense_Mutation_p.R145C	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	145	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R145P(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTCACAGCGAAATTTATTC	0.413000														84			50		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65289681	65289681	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:65289681C>T	uc001xht.3	-	0	183	c.132G>A	c.(130-132)cgG>cgA	p.R44R	SPTB_uc001xhr.3_Silent_p.R44R|SPTB_uc001xhs.3_Silent_p.R44R|SPTB_uc001xhu.3_Silent_p.R44R	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	44	Actin-binding.				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.S43S(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)		AGGCCTTTATCCGGGACCTCT	0.572000											OREG0022736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			39		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175273	51175273	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:51175273G>A	uc021tif.1	-	1	891	c.569C>T	c.(568-570)tCc>tTc	p.S190F	SALL1_uc021tid.1_Missense_Mutation_p.S190F|SALL1_uc021tie.1_Missense_Mutation_p.S287F|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	287					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGATAAATGGGAACTTAGCGT	0.507000														40			28		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1746454	1746454	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:1746454C>T	uc003gdo.3	+	14	2501	c.2346C>T	c.(2344-2346)atC>atT	p.I782I	TACC3_uc003gdp.3_Silent_p.I422I	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	782						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACGAGGAGATCGCCCAGGTCC	0.682000														6			9		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031524	109031524	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:109031524C>T	uc003dxo.3	-	2	296	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	17						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCATCTACTTCCCCCTCCAAG	0.398000														70			47		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76415947	76415947	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:76415947C>G	uc021rkq.1	+	23	4194	c.3859C>G	c.(3859-3861)Cag>Gag	p.Q1287E	LMO7_uc010thv.2_Missense_Mutation_p.Q1005E|LMO7_uc001vjt.1_Missense_Mutation_p.Q953E|LMO7_uc001vjv.3_Missense_Mutation_p.Q1054E|LMO7_uc010thw.2_Missense_Mutation_p.Q931E|LMO7_uc001vjw.1_Missense_Mutation_p.Q960E	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1339						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGAAGCCGCAGGATCAGCT	0.527000														70			16		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968604	5968604	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:5968604T>A	uc010qzt.2	+	0	28	c.28T>A	c.(28-30)Tcc>Acc	p.S10T		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACACCCTCTCCACTGAAGC	0.453000														12			30		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072555	108072555	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:108072555G>A	uc003dwz.3	+	3	760	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	HHLA2_uc011bhl.2_Missense_Mutation_p.E52K|HHLA2_uc010hpu.3_Missense_Mutation_p.E116K|HHLA2_uc003dwy.4_Missense_Mutation_p.E116K	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	116	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CCTTCTGGACGAAGGAATTTA	0.398000														30			12		0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56735006	56735006	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:56735006C>T	uc002qmq.3	-	2	748	c.582G>A	c.(580-582)agG>agA	p.R194R	ZSCAN5A_uc010ygi.2_Silent_p.R77R|ZSCAN5A_uc002qmr.3_Silent_p.R194R|ZSCAN5A_uc002qms.1_Silent_p.R194R	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	194					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R194M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCACCTGCCTCCTGGACAATG	0.612000														25			11		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110416793	110416793	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:110416793G>A	uc003yne.3	+	14	1488	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	462					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATACTATATTGAAATCTTGCT	0.299000										HNSCC(38;0.096)				16			10		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26502153	26502153	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:26502153C>T	uc003nif.4	+	1	472	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	139						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CCTGGTGCATCTGAAGGTGGC	0.532000														38			11		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106763	55106763	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55106763C>T	uc002qgh.1	+	4	739	c.557C>T	c.(556-558)cCc>cTc	p.P186L	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.P186L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	186	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCTGTGGGCCCCGTGAGCCCG	0.572000														99			69		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95765009	95765009	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:95765009C>T	uc003kls.2	-	1	432	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	PCSK1_uc021ybq.1_Missense_Mutation_p.E18K	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	65					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGTGATTTTCAAGTGAACCA	0.338000														23			18		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381031	147381031	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:147381031C>T	uc021ovm.1	+	0	949	c.949C>T	c.(949-951)Caa>Taa	p.Q317*	GJA8_uc001epu.2_Nonsense_Mutation_p.Q317*	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	317					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.Q317E(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGGGGCTACCAAGAGACACT	0.627000														57			19		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764958	92764958	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:92764958C>T	uc003umh.1	-	4	1543	c.327G>A	c.(325-327)aaG>aaA	p.K109K	SAMD9L_uc003umj.1_Silent_p.K109K|SAMD9L_uc003umi.1_Silent_p.K109K|SAMD9L_uc010lfb.1_Silent_p.K109K|SAMD9L_uc003umk.1_Silent_p.K109K|SAMD9L_uc010lfc.1_Silent_p.K109K|SAMD9L_uc010lfd.1_Silent_p.K109K|SAMD9L_uc022ahh.1_Silent_p.K109K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	109										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCTTCTTCCTTTTTGGTGT	0.333000														107			54		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000														26			6		0.217242	0.217242	1	1	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481750	95481750	+	Splice_Site	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:95481750C>T	uc010fhq.2	-	2	630	c.238_splice	c.e2-1	p.D80_splice	ANKRD20A2_uc010fhp.3_Splice_Site	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	500										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TTATGAAAATCCTAAATAAAA	0.303000														91			28		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158256885	158256885	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:158256885G>A	uc003ipm.4	+	9	1788	c.1329G>A	c.(1327-1329)gaG>gaA	p.E443E	GRIA2_uc011cit.2_Silent_p.E396E|GRIA2_uc003ipl.4_Silent_p.E443E|GRIA2_uc003ipk.4_Silent_p.E396E|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	443					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGCGCTATGAGGGCTACTGTG	0.418000														22			19		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35258649	35258649	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr21:35258649G>A	uc002yta.1	+	38	5170	c.4902G>A	c.(4900-4902)acG>acA	p.T1634T	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.T1629T|ITSN1_uc002ytj.2_Silent_p.T1573T|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1634	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCACCAAGACGATCCAGGACA	0.552000														47			38		0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30458380	30458380	+	Splice_Site	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:30458380C>T	uc002wwu.1	-	1	89	c.12_splice	c.e1+1	p.G4_splice	DUSP15_uc002wwv.1_5'Flank|DUSP15_uc002www.1_5'Flank|DUSP15_uc002wwx.1_5'UTR|TTLL9_uc010gdx.1_5'Flank|TTLL9_uc002wwy.1_5'Flank|TTLL9_uc002wwz.1_5'Flank|TTLL9_uc002wxa.1_5'Flank|TTLL9_uc002wxb.1_5'Flank			Q9H1R2	DUS15_HUMAN	Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA.	4						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCCTCCTACCCCTTCGGTCAT	0.776000														3			5		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34101012	34101012	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:34101012G>A	uc003oir.4	-	0	625	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	GRM4_uc011dsn.2_Missense_Mutation_p.R88C|GRM4_uc010jvh.3_Missense_Mutation_p.R88C|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Missense_Mutation_p.R7C	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	88					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TTGTTGATGCGATCCAGGGCG	0.632000														28			15		0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7557429	7557429	+	Missense_Mutation	SNP	G	A	A	rs139562417		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:7557429G>A	uc002gif.1	+	3	989	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 2 polypeptide (ATP1B2), mRNA.	136					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.E136K(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		ACGCTATTACGAACAGCCAGA	0.552000														63			103		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79933704	79933704	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:79933704G>C	uc001xun.3	+	12	2775	c.2284G>C	c.(2284-2286)Gac>Cac	p.D762H	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.D130H|NRXN3_uc010asw.3_Missense_Mutation_p.D130H|NRXN3_uc001xur.4_Missense_Mutation_p.D130H	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	130					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGTCCGCATCGACAGTGCTCC	0.557000														49			30		0	0	1	0	0
NDFIP1	80762	broad.mit.edu	37	5	141511443	141511443	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:141511443T>A	uc003lmi.4	+	1	350	c.134T>A	c.(133-135)aTt>aAt	p.I45N	NDFIP1_uc003lmj.1_Missense_Mutation_p.I45N	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA.	45					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	Golgi membrane|endosome membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGCAGCATTTCTGCAGAG	0.398000														99			67		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111658403	111658403	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:111658403G>A	uc010hqa.3	+	6	2623	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K	PHLDB2_uc003dyc.3_Missense_Mutation_p.E722K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E695K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E738K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E695K|PHLDB2_uc003dyi.3_Missense_Mutation_p.E324K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	738						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCGTCTAGATGAAGAAAAGGA	0.433000														57			31		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52549028	52549028	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:52549028G>A	uc003dej.3	+	35	3905	c.3831G>A	c.(3829-3831)agG>agA	p.R1277R		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1277					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACTGCACCAGGAGATTCCGCT	0.582000														27			15		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26689100	26689100	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:26689100G>A	uc003acb.3	+	1	1019	c.823G>A	c.(823-825)Gag>Aag	p.E275K	SEZ6L_uc003acd.3_Missense_Mutation_p.E275K|SEZ6L_uc011akd.2_Missense_Mutation_p.E275K|SEZ6L_uc003ace.3_Missense_Mutation_p.E275K|SEZ6L_uc011akc.2_Missense_Mutation_p.E275K|SEZ6L_uc003acc.3_Missense_Mutation_p.E275K|SEZ6L_uc003acf.1_Missense_Mutation_p.E48K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E48K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	275						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						catcaccaccGAGCAGGCACC	0.552000														8			6		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773552	151773552	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:151773552G>A	uc001ezf.1	-	1	1819	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	LINGO4_uc021oyu.1_Silent_p.F543F	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	543						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGAGGTGAGGAAGGGGAGGA	0.567000														460			59		0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51820709	51820709	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:51820709G>C	uc002lfj.4	+	9	2163	c.2095G>C	c.(2095-2097)Gat>Cat	p.D699H	POLI_uc010xds.2_Missense_Mutation_p.D620H|POLI_uc002lfk.4_Missense_Mutation_p.D596H|POLI_uc010dpg.3_Missense_Mutation_p.D295H	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	699					DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGATTCTGTTGATGAGAAAAT	0.418000								DNA polymerases (catalytic subunits)						74			12		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118374333	118374333	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:118374333C>T	uc001pta.3	+	26	7740	c.7717C>T	c.(7717-7719)Cca>Tca	p.P2573S	MLL_uc001ptb.3_Missense_Mutation_p.P2576S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2573					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGTGGCCCAACCAAGCCCCAA	0.463000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									22			31		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43913845	43913845	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:43913845C>T	uc001cjk.2	+	67	9572	c.6962C>T	c.(6961-6963)cCt>cTt	p.P2321L	SZT2_uc001cjl.2_Missense_Mutation_p.P309L	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	3220						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGACTGCCCCCTGAGCCAGAG	0.652000														19			11		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43360327	43360327	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:43360327C>T	uc003tid.1	+	4	1051	c.446C>T	c.(445-447)tCg>tTg	p.S149L	HECW1_uc011kbi.1_Missense_Mutation_p.S149L|HECW1_uc003tie.1_Missense_Mutation_p.S181L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	149					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.A148A(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GATGCCAGCTCGTACTTTGTG	0.448000														48			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179467008	179467009	+	Splice_Site	DNP	CC	TT	TT			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:179467008_179467009CC>TT	uc021vsy.1	-	232	47641	c.47416_splice	c.e232+1	p.E15806_splice	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Splice_Site_p.E9501_splice|TTN_uc021vta.1_Splice_Site_p.E9434_splice|TTN_uc021vtb.1_Splice_Site_p.E9309_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16733	Fibronectin type-III 14.						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)			AGTACTAGTACCTTGAATATCA	0.351000														44			20		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42012084	42012084	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:42012084G>A	uc011kbh.2	-	12	2046	c.1955C>T	c.(1954-1956)cCc>cTc	p.P652L	GLI3_uc011kbg.2_Missense_Mutation_p.P593L	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	652					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATCTCTCGGGGGTGGCGGCCG	0.612000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					99			75		0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46608194	46608194	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:46608194G>A	uc002ink.1	-	0	79	c.73C>T	c.(73-75)Cac>Tac	p.H25Y	HOXB1_uc021tzf.1_Missense_Mutation_p.H25Y	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	25						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGGCGCTGTGGGCGCTGTAG	0.632000														55			37		0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991238	21991238	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:21991238C>A	uc002nqj.3	-	3	1731	c.1601G>T	c.(1600-1602)gGa>gTa	p.G534V	ZNF43_uc002nql.3_Missense_Mutation_p.G528V|ZNF43_uc002nqm.3_Missense_Mutation_p.G528V|ZNF43_uc010ecv.3_Missense_Mutation_p.G528V|ZNF43_uc002nqk.3_Missense_Mutation_p.G464V	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGGTTTCTCTCCAGTATGAGT	0.363000														64			12		2.27111e-07	2.28343e-07	1	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54537566	54537566	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:54537566G>A	uc003dhf.3	+	4	477	c.429G>A	c.(427-429)ggG>ggA	p.G143G	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.G49G|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	143						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G143G(2)|p.D142D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACAAAGACGGGAATTTTTTGG	0.398000														49			22		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770734	37770734	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:37770734G>A	uc003asq.4	-	2	1627	c.841C>T	c.(841-843)Ctt>Ttt	p.L281F	ELFN2_uc021wph.1_Missense_Mutation_p.L281F	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	281						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCACCGAAAGGATCTCGTCG	0.692000														52			41		0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46937273	46937273	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:46937273G>A	uc003cqm.3	+	4	430	c.227G>A	c.(226-228)gGg>gAg	p.G76E	PTH1R_uc021wxg.1_Missense_Mutation_p.G76E	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	76						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TCCACATCAGGGAAGCCCAGG	0.542000											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			20		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57136744	57136744	+	Missense_Mutation	SNP	G	A	A	rs138933353		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:57136744G>A	uc002lib.3	-	3	431	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	121					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	p.R121L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TGTCTCTCCCGGTCATATCGG	0.522000														135			88		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961235	73961235	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:73961235G>A	uc004eby.3	-	2	3774	c.3157C>T	c.(3157-3159)Ctg>Ttg	p.L1053L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1053					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GATATATCCAGGAGGTCAGTG	0.498000														25			42		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906468	13906468	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:13906468C>T	uc001rbt.2	-	2	972	c.793G>A	c.(793-795)Gat>Aat	p.D265N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	265					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.G264G(1)|p.G264E(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGTCTGTATCCCCTGCCACC	0.547000														58			32		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323035	29323035	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:29323035G>A	uc011dlo.2	-	0	1020	c.938C>T	c.(937-939)tCc>tTc	p.S313F		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S313F(4)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCCAAAGAGGAAATTGGTGG	0.358000														75			32		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826592	43826592	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:43826592C>T	uc010skx.2	-	19	2743	c.2743G>A	c.(2743-2745)Gaa>Aaa	p.E915K	ADAMTS20_uc001rno.1_Missense_Mutation_p.E69K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E69K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	915	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GATGAACATTCACTTTTGCCA	0.363000														63			40		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125257	104125257	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:104125257C>T	uc010mtd.3	-	3	819	c.710G>A	c.(709-711)gGa>gAa	p.G237E	BAAT_uc004bbd.4_Missense_Mutation_p.G237E	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	237					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AATCTGTACTCCTTGACATAC	0.388000														63			33		0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48884616	48884616	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:48884616C>T	uc001rrr.3	+	5	321	c.190C>T	c.(190-192)Cga>Tga	p.R64*	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	64										endometrium(1)|large_intestine(4)	5						TGCTCGGATTCGAGGTAAAAC	0.433000														64			46		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921036	24921036	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:24921036T>C	uc001ywo.3	+	0	496	c.22T>C	c.(22-24)Ttt>Ctt	p.F8L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	8					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ACTTAGTAAATTTAGACCCGG	0.662000														5			11		0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175395	159175395	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:159175395C>T	uc001ftp.4	+	0	347	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	DARC_uc001fto.3_Silent_p.L56L	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	56					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTCCTGTAACCTGCTGGATGA	0.522000														65			49		0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89154685	89154685	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:89154685C>T	uc021ryf.1	-	17	2921	c.2672G>A	c.(2671-2673)aGa>aAa	p.R891K	EML5_uc021ryg.1_Missense_Mutation_p.R891K|EML5_uc001xxh.1_Missense_Mutation_p.R30K	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	891						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAAGATGTCTCTCCAGATACA	0.403000														206			91		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47861238	47861238	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:47861238G>T	uc010xyn.2	+	3	1482	c.1133G>T	c.(1132-1134)cGg>cTg	p.R378L	DHX34_uc010elc.1_Intron	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	378	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGAGGAGCGGGGTGACCTC	0.657000														30			12		3.07112e-06	3.0822e-06	1	1	0
ABL1	25	broad.mit.edu	37	9	133760430	133760430	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:133760430C>T	uc004bzw.3	+	10	2756	c.2753C>T	c.(2752-2754)cCg>cTg	p.P918L	ABL1_uc004bzv.3_Missense_Mutation_p.P937L	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	918	DNA-binding (By similarity).|Pro-rich.			SPS -> RPG (in Ref. 1; AAA51561).	DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	p.P918L(2)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCGCAGAGCCCGAGCCAGGAG	0.662000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									23			9		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201533398	201533398	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:201533398C>T	uc002uvx.3	+	32	3771	c.3670C>T	c.(3670-3672)Ccc>Tcc	p.P1224S	AOX1_uc010zhf.2_Missense_Mutation_p.P780S|AOX1_uc010fsu.3_Missense_Mutation_p.P590S	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1224					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity	p.S1223Y(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAATTATTCTCCCCAGGGCAT	0.433000														62			15		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212488718	212488718	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:212488718G>A	uc002veg.1	-	17	2229	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	ERBB4_uc002veh.1_Missense_Mutation_p.R711C|ERBB4_uc010zji.1_Missense_Mutation_p.R701C|ERBB4_uc010zjj.1_Missense_Mutation_p.R701C|ERBB4_uc010fut.1_Missense_Mutation_p.R711C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	711					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R711C(2)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTCAAAATACGAAGTTGAGCT	0.423000										TSP Lung(8;0.080)				39			16		0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062219	76062219	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:76062219G>A	uc001oxh.1	-	4	1975	c.1975C>T	c.(1975-1977)Ccg>Tcg	p.P659S	PRKRIR_uc021qnn.1_Missense_Mutation_p.P484S|PRKRIR_uc010rrz.1_Missense_Mutation_p.P484S	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	659					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ATGGTGGACGGAAGCTCTATA	0.448000														87			60		0	0	1	0	0
TRBV30	28557	broad.mit.edu	37	7	142510476	142510476	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:142510476C>T	uc003wbp.2	-	1	242	c.130G>A	c.(130-132)Gga>Aga	p.G44R	TRBV30_uc022aob.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TTTGATGTTCCCTCCACAGTG	0.572000														12			9		0	0	1	0	0
RWDD2B	10069	broad.mit.edu	37	21	30378954	30378954	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr21:30378954C>T	uc002yms.3	-	4	831	c.744G>A	c.(742-744)tgG>tgA	p.W248*		NM_016940	NP_058636	P57060	RWD2B_HUMAN	Homo sapiens RWD domain containing 2B (RWDD2B), mRNA.	248										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AAATTCTCTTCCAGTTTAATT	0.284000														19			11		0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784796	32784796	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:32784796C>T	uc022bfh.1	+	0	615	c.615C>T	c.(613-615)atC>atT	p.I205I	TMEM215_uc003zri.4_Silent_p.I205I	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	205						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ACAGTATCATCGTTTGCTCCT	0.502000														51			41		0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111368055	111368056	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:111368055_111368056CC>TT	uc001vri.3	+	0	697_698	c.265_266CC>TT	c.(265-267)cct>TTt	p.P89F	CARS2_uc010tjm.1_5'Flank|DJ031140_uc001vre.3_5'Flank|ING1_uc001vrf.3_Intron|ING1_uc001vrg.3_Intron|ING1_uc001vrh.3_Intron	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.	89					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CTCCTCCTGGCCTCCGCCCTCC	0.698000														11			6		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139416379	139416379	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:139416379G>A	uc003vvf.4	-	1	726	c.455C>T	c.(454-456)cCc>cTc	p.P152L	HIPK2_uc003vvd.4_Missense_Mutation_p.P152L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	152	Transcriptional corepression (By similarity).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTGAATCATGGGTGGATGCTC	0.542000														91			35		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891358	89891358	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:89891358G>A	uc001pdf.4	+	6	951	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	NAALAD2_uc009yvx.3_Missense_Mutation_p.R281Q|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_Missense_Mutation_p.R281Q|NAALAD2_uc001pde.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	281	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.R281*(2)|p.R281R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGAATCCCCCGAATACCTGTA	0.313000														49			55		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102818663	102818663	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:102818663C>T	uc001phl.3	-	7	1197	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	390	Hemopexin-like 3.		D -> G (in dbSNP:rs17860568).		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)		TTGCCTGTATCCTCAAAGTGA	0.438000														19			22		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128494698	128494698	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:128494698G>A	uc003vnz.4	+	40	7168	c.6959G>A	c.(6958-6960)gGa>gAa	p.G2320E	FLNC_uc003voa.4_Missense_Mutation_p.G2287E	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2320					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGCGGGCCGGAGGCACAGGG	0.677000														16			23		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085847	42085847	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:42085847G>A	uc002ore.4	+	2	662	c.566G>A	c.(565-567)aGg>aAg	p.R189K	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.R189K	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	189	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GTCACGAAGAGGATGAAGCTG	0.537000														16			7		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856119	12856119	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:12856119G>A	uc001auj.2	+	3	1502	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	467										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGTCTGAGGAACTGGAGCT	0.547000														114			11		0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205222	61205222	+	Silent	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:61205222A>G	uc001nrt.3	+	1	184	c.162A>G	c.(160-162)ccA>ccG	p.P54P		NM_017841	NP_060311	Q9NX18	SDHF2_HUMAN	Homo sapiens succinate dehydrogenase complex assembly factor 2 (SDHAF2), nuclear gene encoding mitochondrial protein, mRNA.	54					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						CTTTGCCTCCATGGCAGGAGA	0.458000														122			29		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76231053	76231053	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:76231053T>C	uc010ask.2	+	19	1963	c.1688T>C	c.(1687-1689)cTg>cCg	p.L563P	TTLL5_uc001xrx.3_Missense_Mutation_p.L549P|TTLL5_uc001xrz.3_Missense_Mutation_p.L124P|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	549					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTCCTGTCTCTGGAGGTGCGA	0.502000														70			47		0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101092788	101092788	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:101092788C>T	uc011mrk.1	-	13	1245	c.885G>A	c.(883-885)aaG>aaA	p.K295K	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	295	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCCTGCTATCCTTGAAGTACT	0.502000														37			66		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350642	100350643	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:100350642_100350643CC>TT	uc003uwj.3	+	13	3079_3080	c.2914_2915CC>TT	c.(2914-2916)ccc>TTc	p.P972F	ZAN_uc003uwk.3_Missense_Mutation_p.P972F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	972	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCCCCACGGAAAAA	0.530000														149			82		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54025254	54025254	+	Silent	SNP	C	T	T	rs148643501	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:54025254C>T	uc002acj.2	-	1	135	c.93G>A	c.(91-93)acG>acA	p.T31T	WDR72_uc010bfi.1_Silent_p.T31T	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	31										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAGTCACAATCGTTCGCTGGT	0.512000														74			42		0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	217012832	217012832	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:217012832C>T	uc002vfy.3	+	13	1643	c.1503C>T	c.(1501-1503)ccC>ccT	p.P501P	XRCC5_uc002vfz.3_Silent_p.P387P	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	501	Pro-rich.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CTTTACATCCCCGGGAGCCTC	0.413000								Non-homologous end-joining						92			22		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128659	152128659	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:152128659G>A	uc001ezs.1	-	2	981	c.916C>T	c.(916-918)Cat>Tat	p.H306Y		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	306	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACCATAATGATAACTCTGG	0.522000														788			184		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198704380	198704380	+	Splice_Site	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:198704380A>G	uc001gur.1	+	23	2577	c.2397_splice	c.e23+1	p.N799_splice	PTPRC_uc001gut.1_Splice_Site_p.N638_splice|PTPRC_uc021pgy.1_Splice_Site_p.N753_splice|PTPRC_uc010ppg.1_Splice_Site_p.N735_splice	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	799	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACATTGTAAATGTGAGTTTG	0.279000														56			19		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185184743	185184743	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:185184743G>A	uc010hyf.3	+	10	1926	c.1635G>A	c.(1633-1635)caG>caA	p.Q545Q	MAP3K13_uc011brt.2_Silent_p.Q338Q|MAP3K13_uc011bru.2_Silent_p.Q401Q|MAP3K13_uc003fpi.3_Silent_p.Q545Q|MAP3K13_uc010hyg.3_Silent_p.Q235Q	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	545					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTGGGATGCAGACCAAACGGT	0.483000														44			19		0	0	1	0	0
GLRX3	10539	broad.mit.edu	37	10	131959074	131959074	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:131959074C>T	uc001lkn.2	+	3	337	c.291C>T	c.(289-291)atC>atT	p.I97I	GLRX3_uc001lkm.2_Silent_p.I97I|GLRX3_uc001lko.3_Non-coding_Transcript|GLRX3_uc021qay.1_5'UTR	NM_001199868	NP_001186797	O76003	GLRX3_HUMAN	Homo sapiens glutaredoxin 3 (GLRX3), transcript variant 1, mRNA.	97	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CTCAGAAAATCGACCGATTAG	0.378000														12			25		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41556696	41556696	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:41556696C>T	uc003azl.4	+	19	4036	c.3641C>T	c.(3640-3642)tCt>tTt	p.S1214F		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1214					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(2)|p.S1214Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGAGCGTTTCTTTGGGGGAT	0.438000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					45			25		0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712480	41712480	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:41712480G>A	uc003ora.2	-	1	193	c.126C>T	c.(124-126)ttC>ttT	p.F42F	PGC_uc021yzm.1_Silent_p.F42F	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	42					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGTCCTCAGGAACTCCCCCA	0.532000														27			13		0	0	1	0	0
ZNF154	7710	broad.mit.edu	37	19	58213352	58213352	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:58213352A>G	uc010euf.3	-	2	1205	c.965T>C	c.(964-966)gTt>gCt	p.V322A	ZNF551_uc002qpx.3_Intron|ZNF154_uc002qpy.2_Non-coding_Transcript	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	Homo sapiens zinc finger protein 154 (ZNF154), mRNA.	322						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCAGTGTGAACCCTATGGTG	0.478000														64			36		0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6432083	6432083	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:6432083C>T	uc010dus.3	-	1	426	c.340G>A	c.(340-342)Gac>Aac	p.D114N	SLC25A41_uc010dut.3_5'UTR	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA.	114					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						TTGGCTCTGTCCAGAGGTGCC	0.612000														15			25		0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234402192	234402192	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:234402192G>A	uc010zmr.2	-	23	2829	c.2829C>T	c.(2827-2829)ttC>ttT	p.F943F	USP40_uc010zms.1_Silent_p.F41F|USP40_uc002vuo.1_Silent_p.F107F	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	931					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GCACCTTCAGGAAACCCTGAA	0.458000														11			11		0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8658901	8658901	+	Missense_Mutation	SNP	G	A	A	rs74844184	by1000genomes	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:8658901G>A	uc010cnz.1	-	3	599	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	141										breast(1)|endometrium(2)|kidney(1)	4						GCTAAAATACGCTATGACCAT	0.483000														133			6		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193016960	193016960	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:193016960G>A	uc011bsq.2	-	24	2808	c.2808C>T	c.(2806-2808)ctC>ctT	p.L936L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	936					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CATCTTGCATGAGATACTGGT	0.308000														31			19		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240267	3240267	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:3240267C>T	uc004crg.4	-	4	3616	c.3459G>A	c.(3457-3459)ggG>ggA	p.G1153G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1153						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATCTCCTTCTCCCGTTGGGTC	0.507000														20			42		0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16345240	16345240	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:16345240C>T	uc002ndv.2	+	12	1475	c.1302C>T	c.(1300-1302)acC>acT	p.T434T	AP1M1_uc002ndu.2_Silent_p.T422T|AP1M1_uc010xpd.1_Silent_p.T369T	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	422					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						AGCTCCGGACCCAGTGAGGGG	0.687000														13			28		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115569077	115569077	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:115569077A>T	uc004eqi.3	+	1	299	c.168A>T	c.(166-168)ttA>ttT	p.L56F	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	56					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CAGTGGGATTAGGAAATGTGT	0.438000														17			38		0	0	1	0	0
NPDC1	56654	broad.mit.edu	37	9	139934479	139934479	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:139934479C>T	uc004cks.2	-	6	1736	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	NPDC1_uc004ckt.2_Missense_Mutation_p.D277N	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	Homo sapiens neural proliferation, differentiation and control, 1 (NPDC1), mRNA.	277						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TTCTCCTCATCCGAGGAGGCC	0.672000														36			16		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73566026	73566026	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:73566026C>T	uc001jrx.4	+	54	8547	c.8157C>T	c.(8155-8157)ttC>ttT	p.F2719F	CDH23_uc001jsg.4_Silent_p.F482F|CDH23_uc001jsh.4_Silent_p.F482F|CDH23_uc001jsi.4_Silent_p.F482F	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2722	Cadherin 25.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AACCCCTTTTCGTGAGGCCTC	0.602000														2			4		0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207086375	207086375	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:207086375G>A	uc001hey.3	-	2	565	c.386C>T	c.(385-387)tCa>tTa	p.S129L	FAIM3_uc010prz.2_Missense_Mutation_p.S17L|FAIM3_uc021pif.1_Missense_Mutation_p.S129L|FAIM3_uc010psa.2_Missense_Mutation_p.S38L	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	129					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CTCTTCCCATGATGGCTCGTA	0.463000											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		127			63		0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33517487	33517487	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:33517487G>A	uc002nuf.3	-	2	303	c.237C>T	c.(235-237)ttC>ttT	p.F79F	RHPN2_uc010xro.2_5'UTR|RHPN2_uc002nue.3_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	79					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CTGAGTTGACGAAGCTCAGCT	0.562000														72			51		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78547326	78547326	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:78547326A>C	uc004akc.2	+	1	762	c.224A>C	c.(223-225)tAc>tCc	p.Y75S	PCSK5_uc004ajy.2_Missense_Mutation_p.Y75S|PCSK5_uc004ajz.3_Missense_Mutation_p.Y75S|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	75					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TACCACTTCTACCATAGCAGG	0.448000														44			13		0	0	1	0	0
LOC338579	338579	broad.mit.edu	37	10	45669997	45669997	+	RNA	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:45669997A>G	uc001jcb.1	+	7		c.1076A>G			LOC338579_uc009xmr.1_Non-coding_Transcript					Homo sapiens ankyrin repeat domain-containing protein 30B pseudogene (LOC338579), non-coding RNA.																		TGGGTACTACAAAAGGAACTA	0.333000														4			7		0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21488717	21488717	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:21488717C>T	uc001vyy.3	-	8	643	c.493G>A	c.(493-495)Ggt>Agt	p.G165S	NDRG2_uc010tll.2_Missense_Mutation_p.G161S|NDRG2_uc001vyt.3_Missense_Mutation_p.G78S|NDRG2_uc001vyu.3_Intron|NDRG2_uc001vyv.3_Missense_Mutation_p.G151S|NDRG2_uc001vyw.3_Missense_Mutation_p.G151S|NDRG2_uc001vzb.3_Missense_Mutation_p.G105S|NDRG2_uc001vyx.3_Missense_Mutation_p.G165S|NDRG2_uc001vza.3_Missense_Mutation_p.G151S|NDRG2_uc001vyz.3_Missense_Mutation_p.G151S|NDRG2_uc001vzc.3_Missense_Mutation_p.G151S|NDRG2_uc010aig.3_Missense_Mutation_p.G165S|NDRG2_uc001vze.3_Missense_Mutation_p.G165S|NDRG2_uc001vzd.3_Missense_Mutation_p.G165S|NDRG2_uc001vzg.3_Missense_Mutation_p.G151S|NDRG2_uc001vzf.3_Missense_Mutation_p.G151S	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	165					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGGACAAGACCTTCAACAGTG	0.562000														17			7		0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79662080	79662080	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:79662080C>T	uc002kbg.3	+	12	1237	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S		NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	368	Interaction with SNX1 (By similarity).|Pro-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCACGCAGCCCCCACCAACGT	0.682000														50			31		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160807914	160807914	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:160807914G>A	uc002ube.2	-	23	3689	c.3477C>T	c.(3475-3477)tcC>tcT	p.S1159S	PLA2R1_uc010zcp.2_Silent_p.S1159S|PLA2R1_uc002ubf.3_Silent_p.S1159S	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1159	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.S1159S(2)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CAGTGAGGAAGGACTGGTGAT	0.438000														86			24		0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19093291	19093291	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:19093291C>A	uc003znk.3	-	3	567	c.314G>T	c.(313-315)gGa>gTa	p.G105V	HAUS6_uc022bdv.1_5'UTR|HAUS6_uc003znl.1_5'UTR	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	105					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAAGCTACTTCCACATTCACC	0.333000														30			26		2.4375e-19	2.47308e-19	1	1	0
UPP2	151531	broad.mit.edu	37	2	158962636	158962636	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:158962636C>T	uc002tzo.3	+	3	279	c.259C>T	c.(259-261)Cct>Tct	p.P87S	UPP2_uc002tzp.3_Missense_Mutation_p.P30S	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	30					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.A87D(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						CGTTAAAAATCCTTACTTGGA	0.318000														15			8		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31123775	31123775	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:31123775G>A	uc003tca.2	+	6	637	c.348G>A	c.(346-348)cgG>cgA	p.R116R	ADCYAP1R1_uc003tcg.3_Silent_p.R116R|ADCYAP1R1_uc003tce.2_Silent_p.R116R|ADCYAP1R1_uc003tcb.2_Silent_p.R95R|ADCYAP1R1_uc003tcc.2_Silent_p.R116R|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	116					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGGTGAGCCGGAACTGCACGG	0.483000														52			33		0	0	1	0	0
CRYZ	1429	broad.mit.edu	37	1	75172072	75172072	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:75172072C>T	uc001dgk.3	-	9	1403	c.898G>A	c.(898-900)Ggt>Agt	p.G300S	CRYZ_uc001dgj.3_Missense_Mutation_p.G300S|CRYZ_uc001dgl.3_Missense_Mutation_p.G266S|CRYZ_uc001dgm.3_Missense_Mutation_p.G163S	NM_001130042	NP_001880	Q08257	QOR_HUMAN	Homo sapiens crystallin, zeta (quinone reductase) (CRYZ), transcript variant 1, mRNA.	300					protein homotetramerization|visual perception|xenobiotic catabolic process	Golgi apparatus|cytosol	NADPH binding|NADPH:quinone reductase activity|mRNA 3'-UTR binding|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	TATTGAGAACCTATCACAGGT	0.388000														72			35		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488755	20488755	+	RNA	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:20488755G>A	uc001ytf.1	+	1		c.238G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TTAGATTACTGATTTTGGGCA	0.398000														72			12		0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138264082	138264082	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:138264082C>T	uc003vuc.3	+	14	2605	c.2390C>T	c.(2389-2391)tCc>tTc	p.S797F	TRIM24_uc003vub.3_Missense_Mutation_p.S763F	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	797					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CAGGACAATTCCTCAAATGGA	0.473000														124			55		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9017514	9017514	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:9017514C>T	uc002mkp.3	-	25	38014	c.37810G>A	c.(37810-37812)Gag>Aag	p.E12604K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12606	SEA 4.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATCCTTCTCGGACCTGAGG	0.527000														18			42		0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9236773	9236773	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:9236773A>C	uc010xkl.2	-	0	854	c.854T>G	c.(853-855)cTg>cGg	p.L285R		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	285					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						GAGTGGGTTCAGCATGGGGGT	0.473000														54			32		0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153073876	153073876	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:153073876C>T	uc004fja.1	-	1	485	c.235G>A	c.(235-237)Gag>Aag	p.E79K	PDZD4_uc004fiy.1_5'UTR|PDZD4_uc004fiz.1_Missense_Mutation_p.E79K|PDZD4_uc004fix.2_5'UTR|PDZD4_uc011mze.1_Intron	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	79						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGATATGCTCGAAGGTGATG	0.662000														9			21		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41561563	41561563	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:41561563C>T	uc003xok.3	-	19	2375	c.2291G>A	c.(2290-2292)aGc>aAc	p.S764N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.S72N|ANK1_uc003xoi.3_Missense_Mutation_p.S764N|ANK1_uc003xoj.3_Missense_Mutation_p.S764N|ANK1_uc003xol.3_Missense_Mutation_p.S764N|ANK1_uc003xom.3_Missense_Mutation_p.S797N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	764	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTCACCGAGCTGACCTCGTT	0.547000														60			47		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54964031	54964031	+	Missense_Mutation	SNP	G	A	A	rs112699956		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:54964031G>A	uc001sgd.2	+	5	877	c.484G>A	c.(484-486)Gat>Aat	p.D162N	PDE1B_uc010soz.2_Missense_Mutation_p.D25N|PDE1B_uc010spa.1_Missense_Mutation_p.D121N|PDE1B_uc001sge.3_Missense_Mutation_p.D142N|PDE1B_uc001sgf.3_Missense_Mutation_p.D25N|PDE1B_uc009znq.3_5'UTR	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	162					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ATAGAACCTGGATCTCTGGTG	0.458000														47			22		0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238726726	238726726	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:238726726G>A	uc002vxi.4	+	2	1299	c.1167G>A	c.(1165-1167)tcG>tcA	p.S389S		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	388							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TTGATGATTCGATAATTTCTG	0.388000														50			36		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924640	188924640	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:188924640G>A	uc003izh.1	+	3	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_uc003izi.1_Missense_Mutation_p.V227I|ZFP42_uc021xvm.1_Missense_Mutation_p.V227I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	227					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502000														47			37		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486595	125486595	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:125486595G>A	uc004bmu.1	+	0	327	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109R(2)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGGCATTTGGGAACACTGACA	0.483000														72			62		0	0	1	0	0
MAFB	9935	broad.mit.edu	37	20	39317166	39317166	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:39317166C>T	uc002xji.3	-	0	711	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB), mRNA.	109					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				ATGAGCGCTTCCACCGCGTCC	0.632000			T	IGH@	MM									69			20		0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137289908	137289908	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:137289908G>A	uc003lbz.2	-	13	2133	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	FAM13B_uc003lcb.2_Silent_p.F437F|FAM13B_uc003lca.2_Silent_p.F533F	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	533					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GATCATGTAGGAAACGCTGGC	0.403000														60			22		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330300	125330300	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:125330300G>A	uc004bmp.1	-	0	457	c.457C>T	c.(457-459)Cct>Tct	p.P153S		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGAGGTGAGGAAATGAGCAG	0.547000														54			30		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725246	87725246	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:87725246C>T	uc003pli.3	+	1	897	c.194C>T	c.(193-195)gCc>gTc	p.A65V	HTR1E_uc021zcg.1_Missense_Mutation_p.A65V	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	65					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TGTTCTCTGGCCGTGACGGAC	0.552000														32			45		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908219	164908219	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:164908219C>T	uc003fej.4	-	1	844	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	SLITRK3_uc003fek.3_Missense_Mutation_p.E134K|SLITRK3_uc021xgy.1_Missense_Mutation_p.E134K	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	134						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGTTTGTTTTCATGTAGATAT	0.368000										HNSCC(40;0.11)				41			21		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415686	86415686	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:86415686C>T	uc003uid.3	+	2	1677	c.578C>T	c.(577-579)cCc>cTc	p.P193L	GRM3_uc010lef.3_Missense_Mutation_p.P191L|GRM3_uc010leg.3_Missense_Mutation_p.P65L|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	193					synaptic transmission	integral to plasma membrane		p.P192L(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACCGTGCCCCCCGACTTCTAC	0.572000														161			58		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269214	63269214	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:63269214C>T	uc001xfx.3	-	8	1706	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q	KCNH5_uc001xfy.3_Missense_Mutation_p.R552Q|KCNH5_uc001xfz.1_Missense_Mutation_p.R494Q	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	552					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCTGGCCAATCGAAAAGCAGG	0.498000														74			27		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197432	71197432	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:71197432G>A	uc001xmm.3	-	11	2980	c.2980C>T	c.(2980-2982)Cgg>Tgg	p.R994W	MAP3K9_uc010ttk.2_Missense_Mutation_p.R722W|MAP3K9_uc001xmk.3_Missense_Mutation_p.R727W|MAP3K9_uc001xml.3_Missense_Mutation_p.R1008W	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	994					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.D994N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGACGCGGCCGAGGCAGAAAC	0.627000														57			24		0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48738482	48738482	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:48738482G>A	uc001rrn.2	-	5	724	c.462C>T	c.(460-462)ccC>ccT	p.P154P	ZNF641_uc001rro.2_Silent_p.P140P|ZNF641_uc010sls.2_Silent_p.P131P	NM_152320	NP_001166152	Q96N77	ZN641_HUMAN	Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA.	154	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TGTCCAGTTTGGGAATTGGAA	0.408000														42			28		0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72848928	72848928	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:72848928G>A	uc003tyb.3	+	0	820	c.591G>A	c.(589-591)gaG>gaA	p.E197E		NM_003508	NP_003499	O00144	FZD9_HUMAN	Homo sapiens frizzled family receptor 9 (FZD9), mRNA.	197					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCACCTGCGAGAACCCCGAGA	0.751000														10			12		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391526	139391527	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:139391526_139391527GG>AA	uc004chz.3	-	33	6664_6665	c.6664_6665CC>TT	c.(6664-6666)ccg>TTg	p.P2222L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2222					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	p.S2163_T2283del(2)|p.K2182fs*61(1)		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)		CTGCTGGAACGGGGAGGGCAGC	0.688000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				27			17		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363309	108363309	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:108363309C>T	uc003dxd.3	+	13	1862	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	DZIP3_uc003dxf.1_Silent_p.F480F|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Silent_p.F480F|DZIP3_uc003dxg.1_Silent_p.F203F	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	480					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TAAATGTGTTCCCTGCACCCA	0.418000														89			43		0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8752548	8752548	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:8752548C>T	uc001mgt.3	-	2	475	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	ST5_uc009yfr.3_Intron|ST5_uc001mgu.3_Intron|ST5_uc001mgv.3_Missense_Mutation_p.A97T|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.A97T	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	97					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCGAAGCTGGCGGTCTTGAAG	0.612000														79			4		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167379611	167379611	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:167379611G>A	uc010jjd.3	+	3	731	c.731G>A	c.(730-732)aGc>aAc	p.S244N	ODZ2_uc021yhi.1_Missense_Mutation_p.S174N|ODZ2_uc003lzq.2_Missense_Mutation_p.S123N|ODZ2_uc003lzr.4_Missense_Mutation_p.S53N	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AACCACCACAGCCAGTCGACT	0.547000														14			4		0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22974015	22974015	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:22974015C>T	uc001bgc.4	+	2	580	c.477C>T	c.(475-477)acC>acT	p.T159T	C1QC_uc001bga.4_Silent_p.T159T	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	159	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCAAGTTCACCTGCAAAGTCC	0.592000														58			13		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98363750	98363750	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:98363750C>T	uc001kmq.3	-	14	2355	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	PIK3AP1_uc001kmo.3_Missense_Mutation_p.E342K|PIK3AP1_uc001kmp.3_Missense_Mutation_p.E565K	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	743						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TTGTCCCCTTCCATCCCGCTG	0.552000														3			4		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453936	84453936	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:84453936G>A	uc001vlk.3	-	0	2593	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	569	LRRCT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGAGGAGCATGAAATCCTTTC	0.527000														24			10		0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55543745	55543745	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55543745G>A	uc002qik.3	-	2	115	c.87C>T	c.(85-87)tcC>tcT	p.S29S	GP6_uc002qil.3_Silent_p.S29S|GP6_uc010esq.3_Silent_p.S29S|RDH13_uc010esr.1_Intron	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 2, mRNA.	29	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GAGCCTGGAGGGAGGGCTTGG	0.721000														21			13		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339669	55339669	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:55339669G>A	uc010rih.2	+	0	66	c.66G>A	c.(64-66)aaG>aaA	p.K22K		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTTTTTGGAAGAAAATAGTGT	0.398000														61			30		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8688796	8688796	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:8688796G>A	uc001quo.1	-	4	543	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	126	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGTAGGAAAGGAATTCCTATG	0.373000														47			14		0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114462380	114462380	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:114462380G>A	uc003kqs.3	-	9	2516	c.2007C>T	c.(2005-2007)ttC>ttT	p.F669F	TRIM36_uc011cwc.2_Silent_p.F657F|TRIM36_uc003kqt.3_Silent_p.F514F	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	669	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CACAGTCAAGGAAAATCCCAA	0.373000														48			21		0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19130241	19130241	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:19130241G>A	uc002zou.3	-	1	339	c.302C>T	c.(301-303)cCc>cTc	p.P101L		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	101					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CCTCATACAGGGTGGCGGGGG	0.577000														88			25		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120388191	120388191	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:120388191C>T	uc002tmb.3	+	18	2031	c.919C>T	c.(919-921)Cac>Tac	p.H307Y	PCDP1_uc010yyq.2_Missense_Mutation_p.H437Y	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	593						cilium	calmodulin binding					Colorectal(110;0.196)					ATTCTCTGTCCACAAGTCTTC	0.423000														26			12		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66982433	66982433	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:66982433G>A	uc002jhu.3	-	31	4223	c.4080C>T	c.(4078-4080)ccC>ccT	p.P1360P	ABCA9_uc010dez.3_Silent_p.P1322P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1360	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.E1359K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGAAGCCCAGGGGTTCCCCTC	0.517000														52			34		0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023530	28023530	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:28023530C>T	uc001ity.4	-	4	918	c.693G>A	c.(691-693)ttG>ttA	p.L231L	MKX_uc001itx.4_Silent_p.L231L	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	231					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TGACATGTCTCAAAGAGTCAT	0.478000														94			48		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231993	7231993	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:7231993G>A	uc010wzk.2	+	0	857	c.857G>A	c.(856-858)gGg>gAg	p.G286E		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	286										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGGTGGAGGGGGGCCTGGAG	0.582000														151			64		0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72849776	72849776	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:72849776C>T	uc003tyb.3	+	0	1668	c.1439C>T	c.(1438-1440)gCc>gTc	p.A480V		NM_003508	NP_003499	O00144	FZD9_HUMAN	Homo sapiens frizzled family receptor 9 (FZD9), mRNA.	480					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCCTTCGGGCCACAGAGCAG	0.657000														48			28		0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205085105	205085105	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:205085105G>A	uc010prd.2	-	0	312	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	RBBP5_uc010pre.2_Intron|RBBP5_uc001hbu.2_Intron|RBBP5_uc001hbv.2_Intron	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	0					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGACAAAACGAAAAGGGGGA	0.423000														52			18		0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5275535	5275535	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:5275535G>A	uc001mai.1	-	1	739	c.302C>T	c.(301-303)cCt>cTt	p.P101L	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.P101L	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	101					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGTTCTCAGGATCCACATG	0.502000														81			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048383	9048383	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:9048383G>A	uc002mkp.3	-	4	33452	c.33248C>T	c.(33247-33249)tCa>tTa	p.S11083L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11085	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAACAGCTGAGCTGGCTTC	0.488000														64			13		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326582	158326582	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:158326582C>T	uc001fse.3	+	5	1356	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	CD1E_uc001fsh.3_Nonsense_Mutation_p.Q154*|CD1E_uc001fry.3_Nonsense_Mutation_p.Q288*|CD1E_uc001fsf.3_Nonsense_Mutation_p.Q343*|CD1E_uc001fsg.3_3'UTR|CD1E_uc009wsv.3_Nonsense_Mutation_p.Q256*|CD1E_uc001fsj.3_Nonsense_Mutation_p.Q198*|CD1E_uc001fsk.3_Nonsense_Mutation_p.Q265*|CD1E_uc001fsa.3_Nonsense_Mutation_p.Q111*|CD1E_uc001fsd.3_3'UTR|CD1E_uc001frz.3_Nonsense_Mutation_p.Q253*|CD1E_uc010pig.2_Nonsense_Mutation_p.Q99*|CD1E_uc001fsc.3_Nonsense_Mutation_p.Q166*|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_Silent_p.L69L	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	355					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGCCAACACTCAGGACACCAA	0.433000														61			28		0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130935	161130935	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:161130935C>T	uc010pkc.2	+	2	882	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	USP21_uc010pkd.2_Silent_p.L169L	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	169					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACCCCCTACCCTGTTCAGCAT	0.612000														43			25		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35700639	35700639	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:35700639C>T	uc003jjo.3	+	15	2294	c.2183C>T	c.(2182-2184)cCa>cTa	p.P728L	SPEF2_uc003jjq.4_Missense_Mutation_p.P723L|SPEF2_uc003jjp.1_Missense_Mutation_p.P214L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	728					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATGGTTTTCCAATGACTTTA	0.368000														50			19		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24788604	24788604	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:24788604G>A	uc001wow.3	-	21	3191	c.2772C>T	c.(2770-2772)atC>atT	p.I924I	ADCY4_uc010toh.2_Silent_p.I610I|ADCY4_uc001wox.3_Silent_p.I924I|ADCY4_uc001woy.3_Silent_p.I924I	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	924					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	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGATGGTCTTGATCTTCTCCA	0.532000														61			29		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154808	22154808	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:22154808A>G	uc021urr.1	-	3	3177	c.3028T>C	c.(3028-3030)Ttc>Ctc	p.F1010L	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.E1010D(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GACCAGTTGAAAGCTTTGCCA	0.398000														58			25		0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30860859	30860859	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:30860859G>A	uc003ahy.3	-	7	701	c.612C>T	c.(610-612)ctC>ctT	p.L204L	SEC14L3_uc003ahz.3_Silent_p.L127L|SEC14L3_uc003aia.3_Silent_p.L145L|SEC14L3_uc003aib.3_Silent_p.L145L	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	204	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ATGGCTTCATGAGGTTGTAGC	0.443000														74			55		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430723	37430723	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:37430723G>A	uc021ppc.1	+	6	829	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E244K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	300						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E244K(2)|p.E244G(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGCTTGGTGGAAAAAACACC	0.507000														44			15		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687031	11687031	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:11687031C>T	uc002gne.3	+	39	7855	c.7787C>T	c.(7786-7788)aCg>aTg	p.T2596M	DNAH9_uc010coo.3_Missense_Mutation_p.T1890M	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2596	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2596M(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGAACCCCACGGCAGGCAGC	0.507000														13			16		0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098549	92098549	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:92098549G>A	uc022ahe.1	-	0	1147	c.1147C>T	c.(1147-1149)Cga>Tga	p.R383*		NM_014590	NP_055405	Q9UQF0	ENW1_HUMAN	Homo sapiens endogenous retrovirus group W, member 1 (ERVW-1), transcript variant 1, mRNA.	383	Immunosuppression (By similarity).				syncytium formation	integral to membrane|plasma membrane|virion		p.R383*(2)		endometrium(1)|large_intestine(1)|lung(15)	17						aaagctcttcgattttgaagg	0.448000														32			24		0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101005784	101005784	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:101005784C>T	uc001thu.3	+	5	536	c.310C>T	c.(310-312)Cca>Tca	p.P104S	GAS2L3_uc009zty.3_Missense_Mutation_p.P104S|GAS2L3_uc001thv.3_5'UTR	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	104	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAGAATTTTCCAATGAGAAA	0.353000														57			31		0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1686902	1686903	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:1686902_1686903GG>AA	uc001aic.3	-	6	820_821	c.598_599CC>TT	c.(598-600)ccg>TTg	p.P200L	NADK_uc001aid.4_Missense_Mutation_p.P200L|NADK_uc001aie.3_Missense_Mutation_p.P345L|NADK_uc010nyv.2_Missense_Mutation_p.P168L|NADK_uc009vkx.1_Missense_Mutation_p.P78L	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	200					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGCCATGACCGGAGGGACGCTG	0.619000														107			51		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34276406	34276406	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:34276406G>A	uc001bxm.1	-	9	1561	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S	CSMD2_uc001bxn.1_Missense_Mutation_p.P422S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	422	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACTGAATGGGGAAATTGGGG	0.542000														84			28		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367283	248367283	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:248367283T>C	uc010pzg.2	+	0	914	c.914T>C	c.(913-915)tTa>tCa	p.L305S		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGAAGATCTTAGGAAAGGGC	0.418000														112			52		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956252	42956252	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:42956252C>T	uc003cmk.2	+	3	951	c.765C>T	c.(763-765)ttC>ttT	p.F255F	ZNF662_uc003cmi.2_Silent_p.F229F|ZNF662_uc003cmj.2_Silent_p.F121F	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGAAGGCTTTCAGTTTTCGAT	0.413000														108			23		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179380393	179380393	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:179380393G>A	uc001gmo.3	+	11	1609	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	AXDND1_uc001gmn.2_Missense_Mutation_p.A196T|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.A366T	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	408										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATATGAATTGGCCCTGAAGGT	0.323000														79			48		0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138661967	138661967	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:138661967A>T	uc003ldw.3	+	14	3034	c.2631A>T	c.(2629-2631)aaA>aaT	p.K877N	MATR3_uc003ldt.3_Missense_Mutation_p.K491N|MATR3_uc003ldu.3_Missense_Mutation_p.K829N|MATR3_uc010jfb.3_Missense_Mutation_p.K829N|MATR3_uc003ldx.3_Missense_Mutation_p.K829N|MATR3_uc003ldz.3_Missense_Mutation_p.K829N|MATR3_uc011czb.2_Missense_Mutation_p.K541N|MATR3_uc003leb.3_Missense_Mutation_p.K491N|MATR3_uc003lec.3_Missense_Mutation_p.K506N	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	829						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTATCAGAAATTAAAGGTAA	0.323000														45			26		0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89579900	89579900	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:89579900G>A	uc001dmz.1	-	6	1219	c.948C>T	c.(946-948)gcC>gcT	p.A316A	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	316					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TCTGGGCCAAGGCCAGGACTG	0.547000														48			36		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130855797	130855797	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:130855797A>C	uc001uik.3	+	19	2669	c.2398A>C	c.(2398-2400)Aac>Cac	p.N800H	PIWIL1_uc001uij.2_Missense_Mutation_p.N800H	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	800	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CATCTATGACAACAGCGGCCT	0.453000														101			58		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139399982	139399982	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:139399982C>T	uc004chz.3	-	24	4366	c.4366G>A	c.(4366-4368)Gag>Aag	p.E1456K	NOTCH1_uc004cia.1_Missense_Mutation_p.E686K	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1456					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)		CCCGCGTCCTCCTGGCACTCG	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				14			20		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73205313	73205313	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:73205313G>A	uc010izf.3	+	33	4414	c.4238G>A	c.(4237-4239)gGc>gAc	p.G1413D	RGNEF_uc011csq.2_Missense_Mutation_p.G1413D|RGNEF_uc021yam.1_Missense_Mutation_p.G1413D|RGNEF_uc011csr.2_Missense_Mutation_p.G1100D|RGNEF_uc003kcz.4_Missense_Mutation_p.G377D|RGNEF_uc003kda.4_Missense_Mutation_p.G333D	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	1413					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CTGTCTCTCGGCCACTCTATC	0.607000														17			13		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228155552	228155552	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:228155552G>A	uc002vom.2	+	36	3322	c.3160G>A	c.(3160-3162)Gga>Aga	p.G1054R	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1054	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGAGATAAGGGAGAGCCAGG	0.493000														35			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140767861	140767861	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:140767861C>T	uc003lkc.2	+	0	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	137	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAAAATTCCTTTGAGCTG	0.433000														34			26		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43534617	43534617	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:43534617C>T	uc002lbm.3	-	1	851	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	EPG5_uc002lbo.1_Missense_Mutation_p.E251K	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	251					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGTACTAGTTCCAGTTGAGAC	0.463000														73			36		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21533018	21533018	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:21533018G>A	uc002kuq.3	+	73	9887	c.9801G>A	c.(9799-9801)caG>caA	p.Q3267Q	LAMA3_uc002kur.3_Silent_p.Q3211Q|LAMA3_uc002kus.4_Silent_p.Q1658Q|LAMA3_uc002kut.4_Silent_p.Q1602Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3267	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCTGGACAGATCCCCTTCC	0.522000														75			42		0	0	1	0	0
CYP2U1	113612	broad.mit.edu	37	4	108870613	108870613	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:108870613C>T	uc003hyp.3	+	3	1479	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*	CYP2U1_uc011cfi.2_Nonsense_Mutation_p.R257*	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	466					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		CTACCCTAATCGATTTCTGGA	0.378000														35			15		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136376	103136376	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:103136376G>A	uc002tbz.4	+	8	2237	c.1780G>A	c.(1780-1782)Gac>Aac	p.D594N		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	594					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTCCATAAGGGACATTCTGAC	0.448000														44			22		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573667	38573667	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:38573667C>T	uc002ohk.3	+	2	1971	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	488					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GACGCAGAGTCGGCCCCGGCA	0.657000														31			8		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86278331	86278331	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:86278331G>A	uc002blv.1	+	30	7561	c.7391G>A	c.(7390-7392)aGa>aAa	p.R2464K	AKAP13_uc002blu.1_Missense_Mutation_p.R2468K|AKAP13_uc002blw.1_Missense_Mutation_p.R929K|AKAP13_uc002blx.1_Missense_Mutation_p.R709K	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2464	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTGCCCCGGAGAGCAGAGACC	0.502000														175			84		0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177323	89177323	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:89177323A>C	uc022bzr.1	+	0	239	c.239A>C	c.(238-240)gAa>gCa	p.E80A	TGIF2LX_uc004efe.3_Missense_Mutation_p.E80A	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	80						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TACCCTTCAGAAGAAGAGAAG	0.473000														25			65		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510307	169510307	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:169510307G>A	uc001ggg.1	-	12	4166	c.4021C>T	c.(4021-4023)Cca>Tca	p.P1341S		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1341	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.P1341A(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGAGTTCTGGAGAGAGGTTT	0.527000														208			94		0	0	1	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49212334	49212334	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:49212334G>A	uc003cwh.3	+	3	936	c.701G>A	c.(700-702)gGg>gAg	p.G234E	KLHDC8B_uc003cwi.1_Missense_Mutation_p.G107E	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.	234						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCAGCCTGGGCCCCACAAC	0.617000														54			31		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295729	20295729	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:20295729G>A	uc010tkv.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ATCCTCCCTGGAAATTTTCTC	0.448000														295			81		0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33368105	33368105	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr21:33368105A>T	uc002yph.3	+	9	1690	c.1330A>T	c.(1330-1332)Aaa>Taa	p.K444*		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	444					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	p.E443V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGAACAAGAAAAAAGAGGGGA	0.418000														85			27		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26243883	26243883	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:26243883G>A	uc001isn.2	+	3	609	c.249G>A	c.(247-249)ggG>ggA	p.G83G	MYO3A_uc009xko.1_Silent_p.G83G|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.G83G|MYO3A_uc001ism.2_Silent_p.G83G	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	83	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GATTCTATGGGATATACTTTA	0.373000														106			55		0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59851890	59851890	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:59851890C>T	uc003xtw.1	-	2	603	c.382G>A	c.(382-384)Gga>Aga	p.G128R		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	128						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGCAGTGTTCCATCCTGGCCC	0.473000														59			47		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4217174	4217174	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:4217174G>A	uc010dtt.1	+	17	2293	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	ANKRD24_uc002lzs.2_Missense_Mutation_p.E644K|ANKRD24_uc002lzt.2_Missense_Mutation_p.E645K	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	673										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CACAAACATGGAGGCCACGGG	0.612000														14			6		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830360	61830360	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:61830360A>C	uc001jky.3	-	36	10617	c.10279T>G	c.(10279-10281)Ttg>Gtg	p.L3427V	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3427					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTCTCTGTCAAGCCATCATCT	0.463000														60			32		0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107950319	107950319	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:107950319C>T	uc001dvh.4	+	4	1794	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	NTNG1_uc001dvc.4_Missense_Mutation_p.S359F|NTNG1_uc010out.2_Missense_Mutation_p.S359F|NTNG1_uc001dvf.4_Missense_Mutation_p.S359F|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_Intron|NTNG1_uc001dvd.1_Missense_Mutation_p.S359F	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	359					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CCCAGTATTTCCAGTATTGGT	0.308000														70			19		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468143	74468143	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:74468143C>T	uc002axg.1	+	1	1226	c.944C>T	c.(943-945)cCc>cTc	p.P315L	ISLR_uc002axh.1_Missense_Mutation_p.P315L|ISLR_uc021sqf.1_Missense_Mutation_p.P315L	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	315	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CTGCTTATCCCCGACTTTGGC	0.662000														37			27		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81714125	81714125	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:81714125C>T	uc003uhr.1	-	6	874	c.618G>A	c.(616-618)caG>caA	p.Q206Q		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	206						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGCCAAAAACCTGCCACAATA	0.408000														55			41		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24421410	24421410	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:24421410G>A	uc001bin.4	-	8	1024	c.861C>T	c.(859-861)ccC>ccT	p.P287P	MYOM3_uc001bim.4_5'UTR|MYOM3_uc001bio.3_Silent_p.P287P|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	287	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACAGGGAGAAGGGTTCCTTCT	0.557000														29			16		0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130992377	130992377	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:130992377C>T	uc003eny.3	+	16	2003	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	NEK11_uc003eoa.3_Intron|NEK11_uc003enz.3_Silent_p.F377F|NEK11_uc011blk.2_Silent_p.F375F|NEK11_uc011bll.2_Silent_p.F454F	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	559					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CACCAATTTTCAACAGTGTGA	0.478000														38			16		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142654986	142654986	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:142654986C>A	uc003wcb.3	-	5	810	c.600G>T	c.(598-600)caG>caT	p.Q200H		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	200					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AATGGCCATACTGACTCATCA	0.517000														60			48		3.39706e-21	3.45295e-21	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158654955	158654955	+	Silent	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:158654955G>A	uc001fst.1	-	1	406	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	69					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.I69I(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTTCTCCATGATCCACTtcc	0.448000														63			29		0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45563313	45563313	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:45563313G>A	uc001uzp.2	-	0	301	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	KIAA1704_uc010tfo.1_5'Flank|KIAA1704_uc001uzq.3_5'Flank|KIAA1704_uc001uzr.1_5'Flank|KIAA1704_uc001uzs.3_5'Flank	NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	87	Pro-rich.				RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TGCGCCCCGGGAAGAATCTGG	0.652000														16			9		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43045290	43045290	+	Silent	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:43045290C>T	uc001zqo.2	-	13	2593	c.2154G>A	c.(2152-2154)gaG>gaA	p.E718E	TTBK2_uc010bcy.2_Silent_p.E649E	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	718					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GAGGTTCACCCTCTGTCACAA	0.468000														124			57		0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37416129	37416129	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:37416129C>T	uc002ofc.3	+	3	622	c.104C>T	c.(103-105)tCc>tTc	p.S35F	ZNF568_uc010efg.3_Missense_Mutation_p.S35F|ZNF568_uc010xtn.2_5'UTR|ZNF568_uc021uts.1_Missense_Mutation_p.S35F|ZNF568_uc002ofd.3_5'UTR|ZNF568_uc010efe.3_Intron|ZNF568_uc010eff.2_Missense_Mutation_p.S21F	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGCCCTTTCCGAGGAAGAA	0.418000														28			16		0	0	1	0	0
RPL22	6146	broad.mit.edu	37	1	6257784	6257785	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:6257784_6257785insT	uc001amd.3	-	1	90_91	c.44_45insA	c.(43-45)aagfs	p.K15fs	RPL22_uc001ame.3_Frame_Shift_Ins_p.K15fs	NM_000983	NP_000974	P35268	RL22_HUMAN	Homo sapiens ribosomal protein L22 (RPL22), mRNA.	15					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|heparin binding|structural constituent of ribosome	p.K15fs*5(2)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GAACTTGCTTCTTTTTTTTGCC	0.401			T	RUNX1	"""AML, CML"""								---	31	---	---	12	---					
PRG4	10216	broad.mit.edu	37	1	186276143	186276145	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:186276143_186276145delCTC	uc001gru.4	+	6	1343_1345	c.1292_1294delCTC	c.(1291-1296)actccc>acc	p.P432del	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_In_Frame_Del_p.P391del|PRG4_uc009wyl.3_In_Frame_Del_p.P339del|PRG4_uc009wym.3_In_Frame_Del_p.P298del|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	432	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAGGAGCC	0.655													---	197	---	---	9	---					
DNMT3A	1788	broad.mit.edu	37	2	25458594	25458595	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:25458594_25458595insA	uc002rgc.3	-	21	2835_2836	c.2578_2579insT	c.(2578-2580)tggfs	p.W860fs	DNMT3A_uc002rgd.3_Frame_Shift_Ins_p.W860fs|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Frame_Shift_Ins_p.W671fs	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	860					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.W860R(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAGTGCACCATAAGATGTCC	0.510			"""Mis, F, N, S"""		AML								---	12	---	---	22	---					
FAXC	84553	broad.mit.edu	37	6	99790802	99790803	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:99790802_99790803insA	uc003ppj.4	-	1	656_657	c.373_374insT	c.(373-375)tatfs	p.Y125fs	FAXC_uc003ppi.4_5'UTR	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	Homo sapiens chromosome 6 open reading frame 168 (C6orf168), mRNA.	125																	CATCCTTAAATAAGTTTCCATC	0.361													---	38	---	---	18	---					
MLL3	58508	broad.mit.edu	37	7	151845985	151845985	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:151845985delC	uc003wla.3	-	51	13246	c.13027delG	c.(13027-13029)gaafs	p.E4343fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.E3461fs|MLL3_uc003wkx.3_Frame_Shift_Del_p.E501fs|MLL3_uc003wky.3_Frame_Shift_Del_p.E1907fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4343					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTGCAATCTTCAAACCCACCA	0.483			N		medulloblastoma								---	59	---	---	27	---					
CDK17	5128	broad.mit.edu	37	12	96688890	96688901	+	Splice_Site	DEL	TACAGAAACAGC	-	-	rs151204882	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:96688890_96688901delTACAGAAACAGC	uc001tep.2	-	10	1506	c.874_splice	c.e10-1	p.L292_splice	CDK17_uc009ztk.3_Splice_Site_p.L292_splice|CDK17_uc010svb.2_Splice_Site_p.L239_splice	NM_002595	NP_002586	Q00537	CDK17_HUMAN	Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA.	292	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity	p.Y295N(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TAGAATTTGGTACAGAAACAGCTACAGAAACA	0.354													---	55	---	---	11	---					
TBC1D21	161514	broad.mit.edu	37	15	74181422	74181422	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:74181422delT	uc002avz.3	+	10	1074	c.991delT	c.(991-993)ttafs	p.L331fs	TBC1D21_uc010ulc.2_Frame_Shift_Del_p.L295fs	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	331						intracellular	Rab GTPase activator activity	p.L331I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TCCTCAGACATTAAAGGATTT	0.537													---	19	---	---	8	---					
BRSK1	84446	broad.mit.edu	37	19	55813012	55813013	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55813012_55813013insA	uc002qkf.3	+	9	986_987	c.859_860insA	c.(859-861)gaafs	p.E287fs	BRSK1_uc021vbs.1_Frame_Shift_Ins_p.E271fs|BRSK1_uc002qkg.3_Frame_Shift_Ins_p.E271fs|BRSK1_uc002qkh.3_5'Flank|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	271					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.L286L(1)|p.L286I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGTGGAGCCCGAAAAAAGGCTC	0.584													---	11	---	---	6	---					
