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
NPNT	255743	broad.mit.edu	37	4	106863615	106863615	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:106863615C>T	uc011cfd.2	+	8	1218	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	NPNT_uc011cfc.2_Silent_p.I322I|NPNT_uc011cfe.2_Silent_p.I335I|NPNT_uc003hya.3_Silent_p.I305I|NPNT_uc011cff.2_Silent_p.I305I	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	305	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TTCCTCCTATCATTACCAACA	0.458000														107			39		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269880	36269880	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:36269880G>A	uc010jwf.2	+	5	1018	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	PNPLA1_uc010jwe.1_Missense_Mutation_p.E254K|PNPLA1_uc003olw.1_Missense_Mutation_p.E245K	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	340	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ATTCACATGCGAGTCACCTGT	0.557000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101			28		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62746982	62746982	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:62746982C>T	uc001nwk.3	-	7	1672	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	SLC22A6_uc001nwl.3_Missense_Mutation_p.E447K|SLC22A6_uc001nwj.3_Missense_Mutation_p.E447K|SLC22A6_uc001nwm.3_Missense_Mutation_p.E447K	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	447					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGATACAGTTCCCCAGTATAC	0.517000														50			10		0	0	1	0	0
FAM19A5	25817	broad.mit.edu	37	22	48885451	48885451	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:48885451T>C	uc003bim.4	+	0	164	c.47T>C	c.(46-48)cTg>cCg	p.L16P		NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA.	16						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GCGACCGCCCTGCCCAGCATG	0.726000														2			3		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54930866	54930866	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:54930866G>A	uc003dhf.3	+	25	2385	c.2337G>A	c.(2335-2337)ggG>ggA	p.G779G	CACNA2D3_uc003dhg.1_Silent_p.G685G|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	779						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G779E(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)		AGATTCCAGGGAGCTTCGTCT	0.562000														106			34		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711179	41711179	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:41711179C>T	uc002yyq.1	-	6	1826	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	458	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGACGTGATCATCTGGCTGA	0.607000														57			23		0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169764269	169764269	+	Missense_Mutation	SNP	C	T	T	rs147360987	byFrequency	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:169764269C>T	uc002uem.3	+	4	840	c.748C>T	c.(748-750)Cac>Tac	p.H250Y	G6PC2_uc002uen.3_3'UTR|G6PC2_uc010fpv.3_Missense_Mutation_p.H134Y	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA.	250					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CGACTGGATCCACATTGACAC	0.527000														73			20		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	397067	397067	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:397067G>A	uc021qbk.1	+	3	640	c.611G>A	c.(610-612)gGg>gAg	p.G204E	PKP3_uc001lpc.3_Missense_Mutation_p.G189E	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	189					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGGGCCCGGGGGCCTGGAC	0.711000														42			7		0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109527396	109527396	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:109527396C>T	uc010fjn.3	-	7	1209	c.662G>A	c.(661-663)gGc>gAc	p.G221D	EDAR_uc010yws.2_Missense_Mutation_p.G221D|EDAR_uc002teq.4_Intron	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CGCATGGGGGCCGTCACCTGG	0.597000														26			6		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554221	150554221	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:150554221G>A	uc003why.1	+	2	4881	c.663G>A	c.(661-663)gtG>gtA	p.V221V	ABP1_uc003whz.1_Silent_p.V221V|ABP1_uc003wia.1_Silent_p.V221V	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	221					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGCTCCTCGTGGATCATGGGA	0.607000														90			19		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17211775	17211775	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:17211775G>A	uc002dfa.3	-	10	2370	c.2285C>T	c.(2284-2286)cCc>cTc	p.P762L		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	762					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G761W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCATCCATGGGCCCCAGAAG	0.572000														67			20		0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4099246	4099247	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:4099246_4099247GG>AA	uc002lzk.3	-	6	1125_1126	c.871_872CC>TT	c.(871-873)cct>TTt	p.P291F	MAP2K2_uc002lzj.3_Missense_Mutation_p.P101F	NM_030662	NP_109587	P36507	MP2K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA.	291	Pro-rich.|Protein kinase.				ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGCTGTGAGGCTCTCCTTCT	0.713000														7			5		0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338397	13338397	+	RNA	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:13338397C>T	uc003gms.3	+	0		c.3361C>T								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						CAAAGCTGATCTCATAAATAA	0.438000														77			38		0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651420	75651420	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:75651420C>T	uc002bah.3	-	17	2189	c.2172G>A	c.(2170-2172)ttG>ttA	p.L724L	MAN2C1_uc010bkk.3_Silent_p.L608L|MAN2C1_uc002baf.3_Silent_p.L707L|MAN2C1_uc002bag.3_Silent_p.L707L			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	707					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CCACCAGGACCAAGGACGTCA	0.587000														53			16		0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133196278	133196278	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:133196278T>A	uc001ukk.1	+	2	323	c.323T>A	c.(322-324)tTc>tAc	p.F108Y	P2RX2_uc001uki.1_Missense_Mutation_p.F108Y|P2RX2_uc001ukj.1_Missense_Mutation_p.F108Y|P2RX2_uc001ukl.1_Intron|P2RX2_uc001ukm.1_Intron|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Missense_Mutation_p.F108Y|P2RX2_uc001uko.1_Intron	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 2 (P2RX2), transcript variant 4, mRNA.	108					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GGCAGCGTGTTCAGCATCATC	0.741000														15			5		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143018857	143018857	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:143018857G>A	uc003wcr.1	+	4	699	c.612G>A	c.(610-612)aaG>aaA	p.K204K	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Silent_p.K52K	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	204					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTGTCCTGAAGGAATACCTCA	0.532000														86			23		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49424413	49424413	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:49424413G>A	uc001rta.4	-	40	13810	c.13810C>T	c.(13810-13812)Cct>Tct	p.P4604S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4604					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TAGTAGTCAGGGCCAGTGGGC	0.527000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				28			5		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496610	20496610	+	RNA	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:20496610G>A	uc001ytf.1	+	5		c.663G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TCTACTAGTCGAAAGTGGCCT	0.438000														59			5		0	0	1	0	0
DEFB131	644414	broad.mit.edu	37	4	9446267	9446267	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:9446267T>C	uc011bwt.2	+	0	8	c.8T>C	c.(7-9)gTc>gCc	p.V3A		NM_001040448	NP_001035538	P59861	DB131_HUMAN	Homo sapiens defensin, beta 131 (DEFB131), mRNA.	3					defense response to bacterium	extracellular region				lung(2)	2						ACCATGAGGGTCTTGTTTTTT	0.373000														109			74		0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6291937	6291937	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:6291937G>A	uc001mcp.3	+	3	970	c.715G>A	c.(715-717)Ggg>Agg	p.G239R	CCKBR_uc001mcq.3_Missense_Mutation_p.G167R|CCKBR_uc001mcr.3_Missense_Mutation_p.G239R|CCKBR_uc001mcs.3_Missense_Mutation_p.G239R|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	239					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.Y238Y(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGTGGCCTACGGGCTTATCTC	0.582000														61			16		0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99709600	99709601	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:99709600_99709601GT>AA	uc003uth.3	-	6	1050_1051	c.913_914AC>TT	c.(913-915)acg>TTg	p.T305L	TAF6_uc003utg.3_Missense_Mutation_p.T170L|TAF6_uc003utm.3_Missense_Mutation_p.T248L|TAF6_uc003uti.3_Missense_Mutation_p.T248L|TAF6_uc003utk.3_Missense_Mutation_p.T248L|TAF6_uc011kji.2_Missense_Mutation_p.T285L	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	248					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCAGGGTCCGTGGCAATGCTT	0.604000														33			13		0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1392547	1392548	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:1392547_1392548GG>AA	uc001aft.2	+	7	1723_1724	c.728_729GG>AA	c.(727-729)cgg>cAA	p.R243Q		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	243							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCCTTCCTTCGGAAGCGAGCCA	0.644000														37			42		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181798	47181798	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:47181798G>A	uc001rpi.2	-	4	626	c.227C>T	c.(226-228)tCc>tTc	p.S76F	SLC38A4_uc001rpj.2_Missense_Mutation_p.S76F|SLC38A4_uc009zkl.2_Missense_Mutation_p.S76F	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	76					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CATTCCAAAGGAAGTGGTTCC	0.433000														40			20		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96779469	96779469	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:96779469G>A	uc001yfi.3	-	24	4140	c.3775C>T	c.(3775-3777)Ctt>Ttt	p.L1259F		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1259										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACGGTAAGAAGAGATCGGATT	0.378000														78			17		0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21825445	21825445	+	RNA	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:21825445C>T	uc002gyz.3	+	0		c.76C>T								Homo sapiens family with sequence similarity 27-like (FAM27L), non-coding RNA.											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		cctgacttctccacggggtac	0.642000														33			8		0	0	1	0	0
S1PR2	9294	broad.mit.edu	37	19	10335455	10335455	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:10335455G>A	uc002mnl.2	-	1	238	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	S1PR2_uc021uos.1_Missense_Mutation_p.L43F	NM_004230	NP_004221	O95136	S1PR2_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA.	43					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCGCAACAGAGGATGACGATG	0.557000														141			24		0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30701805	30701805	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:30701805C>T	uc003tbn.3	-	6	970	c.725G>A	c.(724-726)tGg>tAg	p.W242*	CRHR2_uc010kvw.2_Nonsense_Mutation_p.W242*|CRHR2_uc010kvx.2_Nonsense_Mutation_p.W241*|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Nonsense_Mutation_p.W78*|CRHR2_uc003tbo.3_Nonsense_Mutation_p.W228*|CRHR2_uc003tbp.3_Nonsense_Mutation_p.W269*	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	242					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCGATGGCCCAGGCGACGAT	0.562000														65			24		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90050957	90050957	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:90050957G>A	uc003kju.3	+	54	11631	c.11535G>A	c.(11533-11535)atG>atA	p.M3845I	GPR98_uc003kjt.3_Missense_Mutation_p.M1551I|GPR98_uc003kjv.3_Missense_Mutation_p.M1445I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3845	Calx-beta 25.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAATAATAATGAAAGAAAACA	0.343000														52			15		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91795	91795	+	RNA	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrGL000211.1:91795G>A	uc003bnz.1	+	6		c.1151G>A			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CAATTTGTATGTTGGATAGTG	0.383000														23			5		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6138607	6138607	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:6138607C>T	uc001qnn.1	-	21	3118	c.2868G>A	c.(2866-2868)gtG>gtA	p.V956V	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	956	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCCAGACTCCACCACCTCAA	0.567000														59			31		0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46391094	46391094	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:46391094C>T	uc001ncn.1	+	5	1184	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	DGKZ_uc001nch.2_Silent_p.V181V|DGKZ_uc010rgq.2_Silent_p.V170V|DGKZ_uc010rgr.2_Silent_p.V169V|DGKZ_uc001ncj.2_Silent_p.V131V|DGKZ_uc001nck.2_5'UTR|DGKZ_uc001ncm.2_Silent_p.V164V|DGKZ_uc001ncl.2_Silent_p.V165V|DGKZ_uc009yky.1_Silent_p.V165V|DGKZ_uc010rgs.1_Silent_p.V165V	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	353					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCAGGAATGTCCGCGAGGTAA	0.587000											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			11		0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100205667	100205667	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:100205667C>T	uc003hur.2	-	4	570	c.456G>A	c.(454-456)gtG>gtA	p.V152V	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	152					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TTTCATCCACCACTGTGTACT	0.522000														72			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179637892	179637892	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:179637892C>T	uc021vsy.1	-	32	8024	c.7799G>A	c.(7798-7800)gGa>gAa	p.G2600E	TTN_uc021vsz.1_Missense_Mutation_p.G2554E|TTN_uc021vta.1_Missense_Mutation_p.G2554E|TTN_uc021vtb.1_Missense_Mutation_p.G2554E|TTN_uc002unb.2_Missense_Mutation_p.G2600E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2600							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P2600S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGTATTTTCCTTCATCATC	0.313000														42			22		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10025081	10025081	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:10025081G>A	uc002wno.3	+	4	979	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.G196R|ANKRD5_uc010gbz.3_Missense_Mutation_p.G7R	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	196							calcium ion binding	p.G196G(1)		breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						GTCAAGAGAAGGGGTAGTGGA	0.443000														126			42		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49221845	49221845	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:49221845G>A	uc001ngy.3	-	2	634	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	FOLH1_uc009yly.3_Missense_Mutation_p.P110S|FOLH1_uc009ylz.3_Missense_Mutation_p.P110S|FOLH1_uc001ngz.3_Missense_Mutation_p.P125S|FOLH1_uc009yma.3_Intron|FOLH1_uc001nha.3_Missense_Mutation_p.P110S	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	125					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATGTAGTTGGGATGAGTCTTA	0.338000														11			5		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283655	159283655	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:159283655G>A	uc010piu.2	-	0	795	c.795C>T	c.(793-795)tcC>tcT	p.S265S		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGGAACTCTGGGACTTAGGCT	0.532000														105			53		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41337930	41337930	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:41337930C>T	uc001rmm.1	+	13	1754	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	CNTN1_uc009zjy.2_Silent_p.I547I|CNTN1_uc001rmn.1_Silent_p.I536I|CNTN1_uc001rmo.3_Silent_p.I547I	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	547	Ig-like C2-type 6.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.I547I(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCTATGTGATCGATTTTAACA	0.408000														59			14		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431315	56431315	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:56431315G>A	uc010rjm.2	+	0	154	c.154G>A	c.(154-156)Gac>Aac	p.D52N	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	52					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						GATTACAACAGACACTCAGCT	0.473000														245			53		0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60881720	60881720	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:60881720G>A	uc002ycn.3	+	4	551	c.471G>A	c.(469-471)caG>caA	p.Q157Q	ADRM1_uc002yco.3_Silent_p.Q157Q|ADRM1_uc002ycp.1_Non-coding_Transcript	NM_007002	NP_783163	Q16186	ADRM1_HUMAN	Homo sapiens adhesion regulating molecule 1 (ADRM1), transcript variant 1, mRNA.	157	Gly-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	p.Q157K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GTGGCCTGCAGAGCCTGCTGG	0.682000														8			3		0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99156043	99156043	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:99156043C>T	uc002syy.3	+	9	1116	c.723C>T	c.(721-723)aaC>aaT	p.N241N	INPP4A_uc010yvj.1_Silent_p.N241N|INPP4A_uc010yvk.2_Silent_p.N241N|INPP4A_uc002syx.3_Silent_p.N241N|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	241					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CTGATGGTAACCATTTGCGGA	0.577000														65			14		0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88442785	88442785	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:88442785G>A	uc001xvt.3	-	6	776	c.669C>T	c.(667-669)atC>atT	p.I223I	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.I200I|GALC_uc010tvx.2_Silent_p.I197I|GALC_uc010tvz.1_Silent_p.I167I|GALC_uc001xvu.2_Silent_p.I223I	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	223					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTTGCTATGATTTTCACTC	0.378000														40			19		0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27127142	27127142	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:27127142A>G	uc010sjl.2	-	11	1707	c.1469T>C	c.(1468-1470)gTa>gCa	p.V490A		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	490						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CATGCCCCATACTGCCAGGAT	0.393000														43			22		0	0	1	0	0
SLC18B1	116843	broad.mit.edu	37	6	133100506	133100506	+	Silent	SNP	G	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:133100506G>T	uc003qdw.1	-	6	848	c.696C>A	c.(694-696)atC>atA	p.I232I	SLC18B1_uc010kgd.1_Non-coding_Transcript|SLC18B1_uc011eco.1_Silent_p.I106I	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	Homo sapiens chromosome 6 open reading frame 192 (C6orf192), mRNA.	232					transmembrane transport	integral to membrane											TGGGTAAAGCGATCAGTTTCC	0.378000														42			35		1.4065e-29	1.43596e-29	1	1	0
UBE4B	10277	broad.mit.edu	37	1	10228260	10228260	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:10228260C>T	uc021ogc.1	+	24	4106	c.3418C>T	c.(3418-3420)Ctg>Ttg	p.L1140L	UBE4B_uc001aqs.4_Silent_p.L1089L|UBE4B_uc001aqr.4_Silent_p.L960L|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.L544L|UBE4B_uc001aqu.3_5'Flank	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	1089					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTACCTCGCCCTGGCCACCGA	0.582000														38			11		0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178372732	178372732	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:178372732C>T	uc002ull.2	+	15	1627	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F	AGPS_uc010zfb.1_Missense_Mutation_p.S437F	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	527					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTAGGAGAATCTTTTGAGACT	0.323000														83			20		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073507	9073507	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9073507G>A	uc002mkp.3	-	2	14143	c.13939C>T	c.(13939-13941)Cca>Tca	p.P4647S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4649	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						GCAGGAGTTGGTATGAATGTT	0.443000														71			26		0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510994	48510994	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:48510994G>A	uc010rhx.2	+	0	650	c.650G>A	c.(649-651)gGt>gAt	p.G217D		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATCTCTTATGGTGTCATCTTG	0.463000														97			29		0	0	1	0	0
LOC644936	644936	broad.mit.edu	37	5	79595783	79595783	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:79595783G>A	uc010jai.3	-	0	515	c.374C>T	c.(373-375)tCc>tTc	p.S125F						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		CTTCATGATGGAGTTGAAGGT	0.512000														68			19		0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102567566	102567566	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:102567566C>T	uc001phd.1	-	5	643	c.620_splice	c.e5-1	p.G207_splice		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	207					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CAAGTTGAATCCTTGATAATA	0.403000														36			6		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120489	21120489	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:21120489C>T	uc001iqi.3	-	14	1870	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	491					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAATTTCAGTCTCCAGATCTC	0.428000														46			4		0	0	1	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99032606	99032606	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:99032606T>A	uc011kiw.2	-	2	467	c.407A>T	c.(406-408)gAg>gTg	p.E136V	ATP5J2-PTCD1_uc003uqh.3_Missense_Mutation_p.E87V	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	136																	CCCAAAACTCTCCTCCTCCTC	0.602000														105			40		0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155239662	155239662	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:155239662G>A	uc004fnv.1	+	8	1333	c.1154G>A	c.(1153-1155)gGg>gAg	p.G385E	IL9R_uc004fnu.1_3'UTR	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	385					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGCTCCCGGGGAACCTGAGC	0.652000														53			10		0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134217268	134217268	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:134217268T>C	uc001qhp.3	+	4	687	c.499T>C	c.(499-501)Ttc>Ctc	p.F167L	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	167					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TTACAAGGGCTTCACCGAAGC	0.507000														252			53		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111693857	111693857	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:111693857C>T	uc003puy.4	-	12	6042	c.5701G>A	c.(5701-5703)Gag>Aag	p.E1901K	REV3L_uc003pux.4_Missense_Mutation_p.E1823K|REV3L_uc003puz.4_Missense_Mutation_p.E1823K	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1901					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAAATAGTCTCAGACAGGTCA	0.423000								DNA polymerases (catalytic subunits)						83			56		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178436548	178436548	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:178436548G>A	uc001glq.3	+	16	4434	c.3670G>A	c.(3670-3672)Gat>Aat	p.D1224N	RASAL2_uc001glr.3_Missense_Mutation_p.D1083N|RASAL2_uc009wxc.3_Missense_Mutation_p.D597N	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	1083					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GAAAATAATTGATGCACAGGT	0.428000														52			29		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218990	130218990	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:130218990G>A	uc004evz.3	+	6	1252	c.907G>A	c.(907-909)Gat>Aat	p.D303N	ARHGAP36_uc004ewa.3_Missense_Mutation_p.D291N|ARHGAP36_uc004ewb.3_Missense_Mutation_p.D272N|ARHGAP36_uc004ewc.3_Missense_Mutation_p.D167N	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	303	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGACATGAAGGATTCTCTGCT	0.468000														34			59		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943626	144943626	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:144943626C>T	uc003zaa.1	-	0	3809	c.3796G>A	c.(3796-3798)Gtg>Atg	p.V1266M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1266						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCATCCCTCACGGCCTGGGCG	0.687000														23			20		0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18258346	18258346	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:18258346C>T	uc002nhz.4	+	25	3306	c.3306C>T	c.(3304-3306)tcC>tcT	p.S1102S		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	1102	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CACTGTCATCCAGTGAGAGCC	0.652000														9			4		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57372336	57372336	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:57372336C>T	uc003pdx.3	+	7	829	c.742C>T	c.(742-744)Cct>Tct	p.P248S		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	248					DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AAGACTTCAGCCTCTGCTCAA	0.418000														66			5		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3227866	3227866	+	Missense_Mutation	SNP	C	T	T	rs149129110		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:3227866C>T	uc004crg.4	-	6	8535	c.8378G>A	c.(8377-8379)gGa>gAa	p.G2793E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2793	Ig-like C2-type 12.					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)				GGTCAGTGATCCCTGGGGGTG	0.502000														38			4		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739007	91739007	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:91739007C>T	uc010aty.3	-	29	6203	c.6049G>A	c.(6049-6051)Gat>Aat	p.D2017N	CCDC88C_uc001xzj.3_Missense_Mutation_p.D541N|CCDC88C_uc001xzi.3_Missense_Mutation_p.D467N	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	2017					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTCTGCGGATCCCCGCCGGGC	0.647000														102			22		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:127912080G>A	uc010mwv.3	-	7	1122	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_uc004bpg.4_Missense_Mutation_p.R264C|PPP6C_uc010mww.3_Missense_Mutation_p.R242C|PPP6C_uc011lzr.2_Missense_Mutation_p.R117C	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.T301T(2)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000														32			21		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439439	150439439	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:150439439G>A	uc022apw.1	+	5	964	c.824G>A	c.(823-825)gGa>gAa	p.G275E	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.G71E	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GTGAAAACAGGAACATGGAAC	0.567000														63			52		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71606154	71606154	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:71606154C>T	uc004agu.3	+	14	1906	c.1601C>T	c.(1600-1602)tCt>tTt	p.S534F	PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	534						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GACAATGCTTCTGTGCTTGAC	0.443000														31			25		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668305	53668305	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:53668305G>A	uc010eqm.1	-	3	1538	c.1438C>T	c.(1438-1440)Cat>Tat	p.H480Y		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCTCCAGAATGAATTCCCCGA	0.418000														120			24		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167160770	167160770	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:167160770C>T	uc010fpl.3	-	5	1007	c.666G>A	c.(664-666)ttG>ttA	p.L222L	SCN9A_uc002udr.1_Silent_p.L93L|SCN9A_uc002uds.1_Intron|SCN9A_uc002udt.1_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	222						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAATAGTTTTCAAAGCTCTCA	0.348000														35			19		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24166055	24166055	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:24166055C>T	uc002dmd.3	+	9	1313	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	PRKCB_uc002dme.3_Silent_p.I372I	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	372	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTGTGAAGATCCTGAAGAAGG	0.557000														44			14		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14724592	14724592	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:14724592C>T	uc003byy.3	+	2	824	c.372C>T	c.(370-372)gcC>gcT	p.A124A	C3orf20_uc003byz.3_Silent_p.A2A|C3orf20_uc003bza.3_Silent_p.A2A|C3orf20_uc003byx.2_Silent_p.A124A	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	124						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CCACCATGGCCCGTCAGGTGC	0.622000														16			7		0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122341965	122341965	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:122341965G>A	uc003vkk.1	-	0	1057	c.840C>T	c.(838-840)ttC>ttT	p.F280F	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron|RNF133_uc003vkj.1_5'Flank	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	280						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATGCCTTATGGAAAAAATGTT	0.398000														73			50		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182853892	182853892	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:182853892C>T	uc001gpr.3	+	26	3580	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	DHX9_uc001gps.3_Silent_p.I921I|DHX9_uc001gpt.3_Silent_p.I414I|DHX9_uc009wyd.3_Silent_p.I100I	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1135					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGAACATGATCCGTCAGATCT	0.483000														89			45		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38600990	38600990	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:38600990G>A	uc002ohk.3	+	7	2766	c.2257G>A	c.(2257-2259)Gtc>Atc	p.V753I		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	753	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.R752Q(1)		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)			CATTGTCCGAGTCCACAACCC	0.597000														42			11		0	0	1	0	0
C22orf23	84645	broad.mit.edu	37	22	38340502	38340502	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:38340502C>T	uc003auj.2	-	5	713	c.504G>A	c.(502-504)agG>agA	p.R168R	C22orf23_uc021wpl.1_Silent_p.R147R	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA.	168										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					GGAATTCTTTCCTCTCCTGGA	0.547000														65			26		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349799	233349799	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:233349799G>A	uc002vsv.2	-	3	1063	c.858C>T	c.(856-858)atC>atT	p.I286I	ECEL1_uc010fya.1_Silent_p.I286I|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	286				I -> V (in Ref. 1; CAA76113).	neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATGCTGCCAGGATCTGCACCA	0.652000														20			15		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328367	80328367	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:80328367G>A	uc003hlu.3	-	0	1006	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	330					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTAGCCAACGAATAACAGCA	0.428000														143			53		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28956913	28956913	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:28956913C>T	uc002kwr.2	+	0	174	c.39C>T	c.(37-39)atC>atT	p.I13I	DSG4_uc002kwq.2_Silent_p.I13I	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	13					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCTTTTGATCATTCTAATGG	0.423000														38			20		0	0	1	0	0
VPS4B	9525	broad.mit.edu	37	18	61064475	61064475	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:61064475C>T	uc002lix.3	-	8	1144	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	VPS4B_uc010dpx.3_Missense_Mutation_p.R295Q|VPS4B_uc010dpy.3_Missense_Mutation_p.R177Q|VPS4B_uc010dpz.1_Missense_Mutation_p.R177Q	NM_004869	NP_004860	O75351	VPS4B_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA.	295					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						AATATAAATTCGTTTCTCAAA	0.388000														43			19		0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49079245	49079245	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:49079245C>T	uc002pjl.3	+	1	200	c.119C>T	c.(118-120)cCc>cTc	p.P40L	SULT2B1_uc002pjm.3_Missense_Mutation_p.P25L	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	40					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		GTCCCCTTCCCCGTCGGCCTG	0.592000														91			38		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732551	92732551	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:92732551C>T	uc003umf.3	-	2	3130	c.2860G>A	c.(2860-2862)Gaa>Aaa	p.E954K	SAMD9_uc003umg.3_Missense_Mutation_p.E954K|SAMD9_uc022ahg.1_Missense_Mutation_p.E954K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	954						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAAATTTTTCTGTCCCCCAG	0.398000														67			35		0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620451	56620451	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:56620451A>G	uc002iwq.2	-	0	1283	c.1097T>C	c.(1096-1098)gTt>gCt	p.V366A	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	366										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCTGGAGTAACAAACATGGA	0.502000														61			16		0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45003884	45003884	+	Silent	SNP	C	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:45003884C>A	uc010zxr.1	-	13	1302	c.1092G>T	c.(1090-1092)ctG>ctT	p.L364L	ELMO2_uc010zxq.1_Silent_p.L84L|ELMO2_uc002xrs.1_Silent_p.L99L|ELMO2_uc002xrt.1_Silent_p.L352L|ELMO2_uc002xru.1_Silent_p.L352L|ELMO2_uc010zxs.1_Silent_p.L169L|ELMO2_uc002xrv.1_Silent_p.L71L|ELMO2_uc002xrw.3_Silent_p.L169L|ELMO2_uc002xrx.1_Silent_p.L352L	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	352	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CGGTAAATCCCAGCATTTTGT	0.527000														74			25		6.32553e-13	6.39552e-13	1	1	0
NOX3	50508	broad.mit.edu	37	6	155764442	155764442	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:155764442C>T	uc003qqm.3	-	4	554	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	151	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGGTAGCTCTCGTTAGGGGTG	0.562000														16			15		0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242038948	242038948	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:242038948A>G	uc002wan.1	-	0	963	c.470T>C	c.(469-471)aTt>aCt	p.I157T	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.I128T	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA.	128										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		AAATTCTGAAATGATGTCCAG	0.448000														118			64		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6714080	6714080	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:6714080G>A	uc002mfm.3	-	6	758	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	232					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTATGACCTCGAAACTGGGCA	0.622000														70			14		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6094739	6094739	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:6094739G>A	uc001qnn.1	-	38	7141	c.6891C>T	c.(6889-6891)ccC>ccT	p.P2297P	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2297	VWFC 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTTTGGCCGTGGGGCAGGGCT	0.652000														17			7		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885750	60885750	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:60885750G>A	uc002ycq.3	-	74	10484	c.10417C>T	c.(10417-10419)Ccg>Tcg	p.P3473S	LAMA5_uc021wfw.1_Missense_Mutation_p.P3473S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3473	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCTGGCCGGGAGGCCGCCC	0.711000														16			6		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	816934	816934	+	Missense_Mutation	SNP	G	A	A	rs34926266	byFrequency	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:816934G>A	uc002cjw.2	+	13	1558	c.1447G>A	c.(1447-1449)Gtc>Atc	p.V483I	MSLN_uc002cju.1_Missense_Mutation_p.V475I|MSLN_uc002cjt.1_Missense_Mutation_p.V475I|MSLN_uc010brd.1_Missense_Mutation_p.V474I|MSLN_uc002cjy.1_Missense_Mutation_p.V140I	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	483					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCAGCTGGACGTCCTCTATCC	0.637000														77			5		0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56823910	56823910	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:56823910G>A	uc001slf.2	-	9	1233	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N	TIMELESS_uc001slg.2_Silent_p.N354N	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	355					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCATGAGCCGGTTGTAACAGT	0.517000														35			14		0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91430422	91430422	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:91430422G>A	uc002bpv.3	+	4	609	c.490G>A	c.(490-492)Gac>Aac	p.D164N	FES_uc010uqj.2_Missense_Mutation_p.D106N|FES_uc010uqk.2_Missense_Mutation_p.D146N|FES_uc002bpx.3_Missense_Mutation_p.D164N|FES_uc002bpy.3_Missense_Mutation_p.D106N|FES_uc010bny.3_Missense_Mutation_p.D106N	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	164	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCAGACAAGGACCGTGACAA	0.607000														74			23		0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125867302	125867302	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:125867302G>A	uc009zbw.3	-	11	2290	c.2162C>T	c.(2161-2163)cCa>cTa	p.P721L	CDON_uc001qdb.4_Missense_Mutation_p.P98L|CDON_uc001qdc.4_Missense_Mutation_p.P721L	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	721	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGGTGCCTCTGGAACTAAACA	0.438000														16			4		0	0	1	0	0
CFC1B	653275	broad.mit.edu	37	2	131356259	131356259	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:131356259C>T	uc002tro.1	-	2	594	c.203G>A	c.(202-204)tGg>tAg	p.W68*		NM_001079530	NP_115934	P0CG36	CFC1B_HUMAN	Homo sapiens cripto, FRL-1, cryptic family 1B (CFC1B), mRNA.	68					gastrulation	extracellular region						Colorectal(110;0.1)					CTCCGGCCCCCAGCCCTCGGC	0.627000														98			11		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228482060	228482060	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:228482060G>A	uc009xez.1	+	41	11383	c.11339G>A	c.(11338-11340)gGg>gAg	p.G3780E	OBSCN_uc001hsn.3_Missense_Mutation_p.G3780E|OBSCN_uc001hsq.1_Missense_Mutation_p.G1036E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3780	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGGATGCCGGGGAGTACTCG	0.602000														105			51		0	0	1	0	0
DDX11L11	0	broad.mit.edu	37	12	92000	92000	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:92000A>T	uc010sdi.1	-	1	338	c.310T>A	c.(310-312)Ttg>Atg	p.L104M	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		GGTCCTGGCAACACTCTGGAC	0.572000														7			3		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2830821	2830821	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:2830821C>T	uc022aqr.1	-	57	9131	c.8741_splice	c.e57-1	p.G2914_splice	CSMD1_uc011kwj.2_Splice_Site_p.G2244_splice|CSMD1_uc010lrg.3_Splice_Site_p.G925_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2915	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGATTATTTCCTATTGAAAA	0.413000														203			66		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123010131	123010131	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:123010131G>A	uc003egh.2	-	17	3156	c.3156C>T	c.(3154-3156)ttC>ttT	p.F1052F	ADCY5_uc021xdd.1_Silent_p.F702F|ADCY5_uc003egg.2_Silent_p.F710F	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1052					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGCGGGCCAGGAAGTGAGCGG	0.597000														59			26		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083434	44083434	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:44083434G>A	uc003bdy.2	-	10	1373	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	EFCAB6_uc003bdz.2_Silent_p.I201I|EFCAB6_uc010gzi.2_Silent_p.I201I|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Silent_p.I350I	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCTTCCAATTGATTTTAGTGG	0.318000														39			29		0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														17			3		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230341907	230341907	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:230341907C>T	uc002vpv.3	-	6	1357	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R	DNER_uc010zly.1_Missense_Mutation_p.G132R	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	404	EGF-like 5.				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.G404R(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)		CATGTTGCTCCATTTCTGCAT	0.358000														40			23		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55118723	55118723	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:55118723G>A	uc010ooe.1	+	2	448	c.124G>A	c.(124-126)Gct>Act	p.A42T	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.A42T|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.A42T|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	42						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCAGACATGGCTCAGGTGCC	0.572000														81			37		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70963633	70963633	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:70963633G>C	uc001swb.4	-	11	2832	c.2802C>G	c.(2800-2802)gaC>gaG	p.D934E	PTPRB_uc010sto.2_Missense_Mutation_p.D934E|PTPRB_uc010stp.2_Missense_Mutation_p.D844E|PTPRB_uc001swc.4_Missense_Mutation_p.D1152E|PTPRB_uc001swa.4_Missense_Mutation_p.D1064E|PTPRB_uc001swd.4_Missense_Mutation_p.D1151E|PTPRB_uc009zrr.2_Missense_Mutation_p.D1031E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	934	Fibronectin type-III 11.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGAATCAACGTCTCCCCCAC	0.478000														41			23		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701919	56701919	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:56701919C>T	uc010ygh.2	-	3	765	c.765G>A	c.(763-765)aaG>aaA	p.K255K		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	255					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						TCTGGGGTTCCTTCCCCTCCT	0.488000														87			38		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153665827	153665827	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:153665827G>A	uc001fcs.4	+	22	3545	c.3124_splice	c.e22-1	p.G1042_splice	NPR1_uc010pdz.2_Splice_Site_p.G788_splice|NPR1_uc010pea.2_Splice_Site_p.G520_splice	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	1042					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TTTCCCTCCAGGGCAAAGGCA	0.607000														95			26		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10130575	10130575	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:10130575C>T	uc003buw.3	+	35	3702	c.3624C>T	c.(3622-3624)gtC>gtT	p.V1208V	FANCD2_uc003bux.1_Silent_p.V1208V|FANCD2_uc003buy.1_Silent_p.V1208V|FANCD2_uc010hcw.1_Non-coding_Transcript|C3orf24_uc003buz.3_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	1208					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTGTTGGTGTCCCAGAACTGA	0.443000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					123			47		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504278	220504278	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:220504278C>T	uc002vmo.4	+	19	3388	c.3179C>T	c.(3178-3180)tCc>tTc	p.S1060F	SLC4A3_uc002vmp.4_Missense_Mutation_p.S1033F|SLC4A3_uc010fwm.3_Missense_Mutation_p.S583F	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1033	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCATTGGCTCCCTGGGGGGG	0.652000														58			5		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103347260	103347260	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:103347260C>T	uc001dum.3	-	64	5387	c.5069G>A	c.(5068-5070)gGa>gAa	p.G1690E	COL11A1_uc001duk.3_Missense_Mutation_p.G874E|COL11A1_uc001dul.3_Missense_Mutation_p.G1678E|COL11A1_uc001dun.3_Missense_Mutation_p.G1639E|COL11A1_uc009weh.3_Missense_Mutation_p.G1562E	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1678	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACCAGTTTTCCCCTCTTAAA	0.358000														46			16		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426437	10426437	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:10426437C>T	uc010coi.3	-	38	5771	c.5643G>A	c.(5641-5643)gtG>gtA	p.V1881V	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.V1881V|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.	1881					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						TATAAGATTTCACTTTTGCCT	0.323000														56			27		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61048386	61048386	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:61048386G>A	uc001nra.3	-	7	1388	c.1109C>T	c.(1108-1110)tCa>tTa	p.S370L	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	370						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCCCCTGGGTGAGGAAGGGGT	0.677000														4			2		0	0	1	0	0
MRPS35	60488	broad.mit.edu	37	12	27890496	27890496	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:27890496C>G	uc001rih.3	+	6	728	c.657C>G	c.(655-657)taC>taG	p.Y219*	MRPS35_uc001rii.3_Missense_Mutation_p.R183G	NM_021821	NP_068593	P82673	RT35_HUMAN	Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	219					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GGCAGAATTACGATTATGCAG	0.323000														77			33		0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119306546	119306546	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:119306546C>T	uc003ecs.3	+	4	1193	c.895C>T	c.(895-897)Cat>Tat	p.H299Y	ADPRH_uc010hqv.3_Missense_Mutation_p.H299Y|ADPRH_uc011bjb.2_Missense_Mutation_p.H192Y|ADPRH_uc003ect.3_Missense_Mutation_p.H299Y	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	299					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AGCCTTTTTCCATGGTGGAGA	0.537000														66			37		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183032982	183032982	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:183032982G>A	uc002uos.3	-	14	1684	c.1600C>T	c.(1600-1602)Cat>Tat	p.H534Y	PDE1A_uc010zfp.1_Intron|PDE1A_uc002uoq.1_Intron|PDE1A_uc010zfq.1_Intron|PDE1A_uc002uor.3_Missense_Mutation_p.H518Y|PDE1A_uc002uou.3_Missense_Mutation_p.H500Y	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	534					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GTTTACTGATGAATAAACTCA	0.338000														48			22		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110710562	110710562	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:110710562C>T	uc003kpf.3	+	2	490	c.255C>T	c.(253-255)atC>atT	p.I85I	CAMK4_uc010jbv.3_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	85	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAAAAAATCGTAAGAACTG	0.378000														57			16		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196800945	196800945	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:196800945G>A	uc001gtn.3	+	5	923	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.R174Q	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	270					complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GTAATATCCCGAGAAATTATG	0.328000														122			17		0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50897070	50897070	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:50897070C>T	uc001zyt.4	-	20	3263	c.2981G>A	c.(2980-2982)gGa>gAa	p.G994E	TRPM7_uc010bew.2_Missense_Mutation_p.G994E|TRPM7_uc001zyu.3_Missense_Mutation_p.G552E	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	994					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TACCATTTTTCCAATCATCAT	0.299000														43			9		0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25505414	25505414	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:25505414G>A	uc002rgc.3	-	3	601	c.344C>T	c.(343-345)cCa>cTa	p.P115L	DNMT3A_uc002rgd.3_Missense_Mutation_p.P115L|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgf.3_Missense_Mutation_p.P115L	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	115					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			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)					TCCCTCTGCTGGGGCCCCGCC	0.657000			"""Mis, F, N, S"""		AML									35			14		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18390671	18390671	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:18390671C>T	uc003cbh.3	-	10	4018	c.2283G>A	c.(2281-2283)ttG>ttA	p.L761L	SATB1_uc003cbi.3_Silent_p.L793L|SATB1_uc003cbj.3_Silent_p.L761L	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	761					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTCAGTCTTTCAAATCAGTAT	0.358000														97			43		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51759245	51759245	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:51759245C>T	uc001ryk.2	-	3	1008	c.783G>A	c.(781-783)caG>caA	p.Q261Q	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.Q261Q	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	261	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCACCTCCGCCTGTGCCACGC	0.672000														59			5		0	0	1	0	0
URM1	81605	broad.mit.edu	37	9	131151609	131151609	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:131151609C>T	uc011may.1	+	3	320	c.258C>T	c.(256-258)atC>atT	p.I86I	URM1_uc004buv.2_Intron	NM_001135947	NP_001129419	Q9BTM9	URM1_HUMAN	Homo sapiens ubiquitin related modifier 1 (URM1), transcript variant 2, mRNA.	0					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						TGGGGGACATCCCTCCCCCAG	0.597000														47			24		0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151337513	151337513	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:151337513C>T	uc010pcy.2	-	10	1401	c.1271G>A	c.(1270-1272)cGg>cAg	p.R424Q	SELENBP1_uc001exx.3_Missense_Mutation_p.R382Q|SELENBP1_uc010pcz.2_Missense_Mutation_p.R320Q|SELENBP1_uc001eya.3_Missense_Mutation_p.R318Q	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	382					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCAGCCACCCGTTTTCCCTT	0.577000														11			4		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304766	10304766	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:10304766C>T	uc002gmm.2	-	23	3029	c.2934G>A	c.(2932-2934)gtG>gtA	p.V978V	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	978					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAAGATTTTTCACCTACAAAG	0.413000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					205			70		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94741724	94741724	+	Silent	SNP	G	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:94741724G>T	uc001ycs.1	+	23	2617	c.2463G>T	c.(2461-2463)cgG>cgT	p.R821R		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	821						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ATTCATTCCGGACTCGTAATG	0.418000														209			27		5.77227e-19	5.87678e-19	1	1	0
SAA1	6288	broad.mit.edu	37	11	18288502	18288502	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:18288502C>T	uc021qem.1	+	2	169	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SAA1_uc021qen.1_Missense_Mutation_p.S23L|SAA1_uc021qeo.1_Missense_Mutation_p.S23L	NM_001178006	NP_954630	P02735	SAA_HUMAN	Homo sapiens serum amyloid A1 (SAA1), transcript variant 3, mRNA.	23					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTTCTTTTCGTTCCTTGGC	0.498000														48			13		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55926911	55926911	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:55926911C>T	uc010rja.2	-	0	883	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TTCACCTCTTCGTTTCTTAAG	0.303000														41			17		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409763	56409763	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:56409763C>T	uc001njb.1	-	0	153	c.153G>A	c.(151-153)atG>atA	p.M51I	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TCAATACAATCATCCCCAAAT	0.423000														71			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056776	9056776	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9056776G>A	uc002mkp.3	-	2	30874	c.30670C>T	c.(30670-30672)Cca>Tca	p.P10224S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10226	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCCACTGGAATTTCAGTA	0.458000														61			13		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42807886	42807886	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:42807886C>T	uc010goq.3	+	3	574	c.228C>T	c.(226-228)atC>atT	p.I76I	MX1_uc002yzh.3_Silent_p.I76I|MX1_uc002yzi.3_Silent_p.I76I	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	76					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TCGCCGTCATCGGGGACCAGA	0.607000														93			21		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770528	112770528	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:112770528G>T	uc003kqm.2	-	0	201	c.9C>A	c.(7-9)gaC>gaA	p.D3E	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	3					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.D3D(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GGACAGCAGCGTCATCCATGG	0.547000														34			16		1.37285e-15	1.38997e-15	1	1	0
ABCC3	8714	broad.mit.edu	37	17	48741355	48741355	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:48741355G>A	uc002isl.3	+	9	1301	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	ABCC3_uc002isk.4_Silent_p.G407G|ABCC3_uc002ism.3_Missense_Mutation_p.G120R	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	407	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCACTGTGGGGGAAATTGTCA	0.572000														78			16		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3783123	3783123	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:3783123C>T	uc002lyt.3	-	7	1076	c.676_splice	c.e7+1	p.A226_splice	MATK_uc002lyv.3_Splice_Site_p.A227_splice|MATK_uc002lyu.3_Splice_Site_p.A185_splice|MATK_uc010dtq.3_Splice_Site_p.A226_splice	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	226					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTCCCCTACCCCTGGCCAG	0.657000														56			10		0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44489600	44489600	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:44489600G>A	uc003cnf.2	-	7	1911	c.1563C>T	c.(1561-1563)gcC>gcT	p.A521A	ZNF445_uc011azv.1_Silent_p.A509A|ZNF445_uc011azw.1_Silent_p.A521A	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	521					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCCACCGGAAGGCTTTCCCAC	0.468000														109			28		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121500244	121500244	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:121500244C>T	uc001pxx.3	+	47	6746	c.6617C>T	c.(6616-6618)tCa>tTa	p.S2206L	SORL1_uc010rzp.1_Missense_Mutation_p.S1052L|SORL1_uc010rzq.1_Missense_Mutation_p.S821L	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2206					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACTGGATTTTCAGATGACGTC	0.398000														64			18		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508306	71508306	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:71508306G>A	uc011caw.1	+	8	1444	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	388					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCTACTTCAAGAGGCAATTAT	0.468000														175			55		0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181666	128181666	+	Silent	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:128181666A>G	uc003ekk.1	-	2	2084	c.423T>C	c.(421-423)ttT>ttC	p.F141F	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Silent_p.F141F	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	141					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGAAGGCCGGAAATTCTCCAA	0.607000														33			13		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43222803	43222803	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:43222803G>A	uc003ouq.1	+	6	872	c.593G>A	c.(592-594)gGg>gAg	p.G198E		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	198	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AATGTGGCCGGGTTTCGAGGA	0.597000														36			17		0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118786967	118786967	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:118786967G>A	uc004erv.3	-	3	643	c.378C>T	c.(376-378)ttC>ttT	p.F126F	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.F126F|SEPT6_uc004ert.3_Silent_p.F126F|SEPT6_uc004eru.3_Silent_p.F126F|SEPT6_uc004erw.3_Silent_p.F68F|SEPT6_uc011mtv.1_Silent_p.F68F|SEPT6_uc011mtw.1_Silent_p.F156F	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	126					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GGTAGGCCTCGAATTGTGCAT	0.502000			T	MLL	AML									15			28		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924612	105924612	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:105924612G>A	uc002tcq.3	-	1	231	c.147C>T	c.(145-147)ttC>ttT	p.F49F	TGFBRAP1_uc002tcr.4_Silent_p.F49F	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	49	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCTCCAACAGGAAGTGGTAGA	0.607000														34			8		0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166097	71166097	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:71166097C>T	uc002jje.3	+	1	999	c.639C>T	c.(637-639)ttC>ttT	p.F213F	SSTR2_uc021ucm.1_Silent_p.F213F	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	213					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTACACTTTCATTCTGGGGT	0.527000														89			28		0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138658408	138658408	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:138658408G>A	uc003ldw.3	+	12	2303	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N	MATR3_uc003ldt.3_Missense_Mutation_p.D296N|MATR3_uc003ldu.3_Missense_Mutation_p.D634N|MATR3_uc010jfb.3_Missense_Mutation_p.D634N|MATR3_uc003ldx.3_Missense_Mutation_p.D634N|MATR3_uc003ldy.3_Missense_Mutation_p.D311N|MATR3_uc003ldz.3_Missense_Mutation_p.D634N|MATR3_uc011czb.2_Missense_Mutation_p.D346N|MATR3_uc003leb.3_Missense_Mutation_p.D296N|MATR3_uc003lec.3_Missense_Mutation_p.D311N	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	634						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)			GTCCGGTGAAGATGGTGAGAA	0.428000														40			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107013088	107013088	+	RNA	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:107013088G>A	uc021ser.1	-	218		c.8788C>T								Parts of antibodies, mostly variable regions.																		TGCTTCTAATGAAACCTACCC	0.507000														92			42		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34076675	34076675	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:34076675G>A	uc001bxm.1	-	40	6486	c.6309C>T	c.(6307-6309)tcC>tcT	p.S2103S	CSMD2_uc001bxn.1_Silent_p.S2063S|CSMD2_uc001bxo.1_Silent_p.S976S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2063						integral to membrane|plasma membrane	protein binding	p.V2103V(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)				GCCGATTCTGGGAGTGGTCGC	0.567000														22			12		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990196	39990196	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:39990196C>T	uc002xjy.1	-	3	2237	c.2013G>A	c.(2011-2013)ggG>ggA	p.G671G		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	671						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGCGGCTCAGCCCACTGGCCA	0.652000														19			7		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28194115	28194115	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:28194115G>A	uc003adj.3	-	0	3372	c.2417C>T	c.(2416-2418)tCg>tTg	p.S806L		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	806							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGAGCCCAGCGAGAGCGCGCC	0.672000			T	ETV6	"""AML, meningioma"""									41			17		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321172	52321172	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:52321172G>A	uc003xqu.4	-	16	3113	c.3012C>T	c.(3010-3012)atC>atT	p.I1004I	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1004					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCGCGCCCACGATCTTCCTGG	0.622000														11			8		0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70359509	70359509	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:70359509C>T	uc002eyo.3	+	6	654	c.525C>T	c.(523-525)gcC>gcT	p.A175A	DDX19B_uc002eys.3_Intron|DDX19B_uc010vlv.2_Silent_p.A149A|DDX19B_uc010vlw.2_Silent_p.A66A|DDX19B_uc002eyp.3_Silent_p.A144A|DDX19B_uc002eyq.3_Silent_p.A66A|DDX19B_uc010vlx.2_Silent_p.A24A|LOC100506083_uc002eyt.3_Intron	NM_007242	NP_001014449	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	175	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	p.A175T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				ATGAGCTCGCCCTCCAAACAG	0.418000														146			65		0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376876	138376876	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:138376876C>T	uc022bpi.1	+	0	520	c.520C>T	c.(520-522)Ccg>Tcg	p.P174S	PPP1R26_uc004cfr.1_Missense_Mutation_p.P174S	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	174						nucleolus	protein binding										TAGATGTAAGCCGGAACCGGC	0.687000														25			18		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201356167	201356167	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:201356167G>A	uc001gwm.3	-	2	557	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S	LAD1_uc009wzu.1_Missense_Mutation_p.P130S	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	108						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCCTGGATGGGGGCCTGTGCA	0.627000														41			15		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31025826	31025826	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:31025826C>T	uc002nsu.1	+	2	2381	c.2243C>T	c.(2242-2244)tCg>tTg	p.S748L	ZNF536_uc010edd.1_Missense_Mutation_p.S748L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	748					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCCTGGGCTCGGCCATGAAG	0.572000														120			21		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815518	106815518	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:106815518G>A	uc003ymd.3	+	7	3231	c.3208G>A	c.(3208-3210)Gaa>Aaa	p.E1070K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E801K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1070					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCTCAGCACGAAGACGACCA	0.478000														34			13		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687523	27687523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:27687523C>T	uc001itu.2	-	3	2122	c.2004G>A	c.(2002-2004)tgG>tgA	p.W668*		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	668					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CATCTTTATCCCAGTAGTCAA	0.308000														27			24		0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36901955	36901955	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:36901955A>C	uc003apn.4	-	0	623	c.515T>G	c.(514-516)gTg>gGg	p.V172G	FOXRED2_uc003apo.4_Missense_Mutation_p.V172G|FOXRED2_uc003app.4_Missense_Mutation_p.V172G	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	172					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCACTGATGCACCTGGCCCTT	0.587000														81			26		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332853	70332854	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:70332853_70332854GG>AA	uc001oqc.3	-	20	3458_3459	c.3346_3347CC>TT	c.(3346-3348)ccc>TTc	p.P1116F	SHANK2_uc010rqn.2_Missense_Mutation_p.P592F|SHANK2_uc001opz.3_Missense_Mutation_p.P587F|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	803					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTGCTCTCGGGCCCCTGGGCT	0.693000														31			13		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307551	54307551	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:54307551G>A	uc021smr.1	+	0	2451	c.2451G>A	c.(2449-2451)caG>caA	p.Q817Q	UNC13C_uc021sms.1_Silent_p.Q817Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	817					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAGCACACAGAGTCTGAGTG	0.433000														49			16		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459645	142459645	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:142459645G>A	uc003wak.2	+	2	238	c.221G>A	c.(220-222)gGa>gAa	p.G74E	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.G14E	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	74	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GTGAGACTGGGAGAGCACAAC	0.567000														253			40		0	0	1	0	0
TMEM206	55248	broad.mit.edu	37	1	212553313	212553314	+	Missense_Mutation	DNP	GG	AA	AA	rs138060998		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:212553313_212553314GG>AA	uc010pte.2	-	5	912_913	c.744_745CC>TT	c.(742-747)ttccgc>ttTTgc	p.R249C	TMEM206_uc001hjc.4_Missense_Mutation_p.R188C	NM_001198862	NP_001185791	Q9H813	TM206_HUMAN	Homo sapiens transmembrane protein 206 (TMEM206), transcript variant 1, mRNA.	188						integral to membrane		p.E249Q(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TTGTTCAGGCGGAACTGGAGGA	0.525000														113			57		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10914379	10914379	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:10914379G>A	uc002yip.1	-	20	1708	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.S429L|TPTE_uc002yir.1_Missense_Mutation_p.S409L|TPTE_uc010gkv.1_Missense_Mutation_p.S309L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	447	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCCTAATGAAATAGTGGA	0.328000														81			7		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404430	197404430	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:197404430A>G	uc001gtz.3	+	8	3646	c.3437A>G	c.(3436-3438)aAc>aGc	p.N1146S	CRB1_uc010poz.2_Missense_Mutation_p.N1122S|CRB1_uc009wza.3_Missense_Mutation_p.N1034S|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.N627S|CRB1_uc001gub.1_Missense_Mutation_p.N795S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1146	EGF-like 15.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCAACTCCAACCCCTGTTTG	0.428000														105			22		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808469	8808469	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:8808469C>T	uc002mkl.2	-	0	704	c.583G>A	c.(583-585)Gtg>Atg	p.V195M		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	195						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GTGTCCACCACCAGCCCGCTG	0.662000														41			13		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140753756	140753756	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:140753756C>T	uc003ljy.2	+	0	106	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	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_uc011dau.2_Missense_Mutation_p.P36S	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	36	Cadherin 1.				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)			CTACTCTATTCCCGAGGAGCT	0.662000														39			9		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55350936	55350936	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:55350936G>A	uc002qhm.1	+	3	470	c.424G>A	c.(424-426)Gga>Aga	p.G142R	KIR3DL2_uc010yfj.2_Missense_Mutation_p.G135R|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.G142R|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	237	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGTTCAGGCAGGAGAGAATGT	0.577000														74			77		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	705456	705456	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:705456C>T	uc002cii.1	+	14	1760	c.1706C>T	c.(1705-1707)tCg>tTg	p.S569L	WDR90_uc002cig.1_Missense_Mutation_p.S569L|WDR90_uc002cih.1_Missense_Mutation_p.S570L|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.S96L|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	569										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGGAGCCCTCGGCTGCCATG	0.721000														6			4		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833946	45833946	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:45833946C>T	uc010gpt.1	+	19	3235	c.3135C>T	c.(3133-3135)atC>atT	p.I1045I	TRPM2_uc002zet.1_Silent_p.I1045I|TRPM2_uc002zeu.1_Silent_p.I1045I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I1045I|TRPM2_uc002zex.1_Silent_p.I831I|TRPM2_uc002zey.1_Silent_p.I558I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1045						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACCTCCTCATCGCCATGTTCA	0.657000														284			91		0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137622874	137622874	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:137622874A>C	uc003lcs.1	-	10	1444	c.1244T>G	c.(1243-1245)cTg>cGg	p.L415R	CDC25C_uc003lcp.1_Missense_Mutation_p.L337R|CDC25C_uc003lcq.1_Missense_Mutation_p.L264R|CDC25C_uc003lcr.1_Missense_Mutation_p.L337R|CDC25C_uc011cyp.1_Missense_Mutation_p.L354R	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	337	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GTGTCCTCCCAGATACTCATA	0.473000														59			15		0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140373685	140373685	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:140373685C>T	uc003vvy.1	+	0	733	c.555C>T	c.(553-555)ttC>ttT	p.F185F	ADCK2_uc003vvz.3_Silent_p.F185F	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	185						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTGAGCGCTTCCTTCGGCAGG	0.597000														115			32		0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51043424	51043425	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:51043424_51043425AC>TT	uc003bmx.3	+	5	1811_1812	c.1694_1695AC>TT	c.(1693-1695)gac>gTT	p.D565V	MAPK8IP2_uc003bmy.3_Missense_Mutation_p.D538V|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	566					MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCTCGCCGGACAGCCCTGACC	0.663000														45			9		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320340	38320340	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:38320340G>A	uc010abx.3	-	2	866	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.L211L|TRPC4_uc001uws.3_Silent_p.L211L|TRPC4_uc010tey.2_Silent_p.L211L|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Silent_p.L211L	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	211					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCGCTTGACAGTGCAATGAGA	0.493000														76			18		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47969758	47969758	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:47969758C>T	uc002zjo.2	+	21	2780	c.2597C>T	c.(2596-2598)tCg>tTg	p.S866L	DIP2A_uc011afy.1_Missense_Mutation_p.S802L|DIP2A_uc011afz.1_Missense_Mutation_p.S862L|DIP2A_uc002zjn.3_Missense_Mutation_p.S866L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	866					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCGGATGCCTCGGAGGAGGAC	0.642000														101			6		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208535	58208535	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:58208535G>A	uc001vhq.1	+	0	2747	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	PCDH17_uc010aec.1_Missense_Mutation_p.E619K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	619	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGACTTCGGCGAGAGCGGGCG	0.662000														62			16		0	0	1	0	0
PCYT2	5833	broad.mit.edu	37	17	79865706	79865706	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:79865706G>A	uc002kcf.2	-	4	544	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PCYT2_uc010wvb.2_Silent_p.S113S|PCYT2_uc002kce.2_Silent_p.S67S|PCYT2_uc002kch.2_Silent_p.S145S|PCYT2_uc002kci.2_Silent_p.S86S|PCYT2_uc010wvc.2_Silent_p.S67S	NM_002861	NP_002852	Q99447	PCY2_HUMAN	Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA.	145	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGTCTGTGGTGGACACCCCTT	0.642000														43			13		0	0	1	0	0
CYBASC3	220002	broad.mit.edu	37	11	61121274	61121274	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:61121274G>A	uc010rlh.2	-	4	1206	c.426C>T	c.(424-426)gtC>gtT	p.V142V	CYBASC3_uc001nrf.4_Silent_p.V125V|CYBASC3_uc001nrg.3_Silent_p.V125V|CYBASC3_uc009ynn.3_Intron|CYBASC3_uc009yno.2_Silent_p.V125V	NM_001161454	NP_705839	Q8NBI2	CYAC3_HUMAN	Homo sapiens cytochrome b, ascorbate dependent 3 (CYBASC3), transcript variant 1, mRNA.	125	Cytochrome b561.				electron transport chain|transport	integral to membrane|late endosome membrane|lysosomal membrane	metal ion binding|oxidoreductase activity			kidney(1)|large_intestine(3)|lung(2)	6						CGAAGAGGAAGACAGTGGTGA	0.547000														34			11		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56319229	56319229	+	Missense_Mutation	SNP	G	A	A	rs141366900		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:56319229G>A	uc010ygf.2	-	5	2704	c.1993C>T	c.(1993-1995)Cgc>Tgc	p.R665C	NLRP11_uc002qlz.3_Intron|NLRP11_uc002qmb.3_Missense_Mutation_p.R566C|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	665							ATP binding	p.R665C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTGAGTGTGCGAAGTTTACAG	0.423000														173			22		0	0	1	0	0
NDUFB2	4708	broad.mit.edu	37	7	140404690	140404690	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:140404690T>C	uc003vwa.3	+	2	338	c.274T>C	c.(274-276)Tgg>Cgg	p.W92R	NDUFB2_uc010lnl.3_Non-coding_Transcript|NDUFB2_uc022amu.1_5'Flank	NM_004546	NP_004537	O95178	NDUB2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa (NDUFB2), nuclear gene encoding mitochondrial protein, mRNA.	92					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	TCCTTCCCAGTGGACAGATGA	0.393000														106			29		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450511	107450511	+	Silent	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:107450511A>G	uc002tdq.3	-	2	1154	c.1035T>C	c.(1033-1035)aaT>aaC	p.N345N	ST6GAL2_uc002tdr.3_Silent_p.N345N|ST6GAL2_uc002tds.3_Silent_p.N345N	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	345					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTACCTGCGAATTAATGATGC	0.398000														111			21		0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125302130	125302130	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:125302130G>A	uc001ugp.3	-	1	503	c.250C>T	c.(250-252)Ccg>Tcg	p.P84S	SCARB1_uc001ugm.4_Missense_Mutation_p.P84S|SCARB1_uc001ugn.4_Missense_Mutation_p.P84S|SCARB1_uc010tbd.2_Missense_Mutation_p.P84S|SCARB1_uc001ugo.4_Missense_Mutation_p.P84S	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	84					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	p.P84P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CGCACCTGCGGCTTCTCGCCC	0.617000														54			21		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117898627	117898627	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:117898627G>A	uc003pxu.3	-	2	712	c.458C>T	c.(457-459)cCc>cTc	p.P153L	ROS1_uc003pxv.3_Intron|ROS1_uc010keg.2_5'Flank	NM_020399	NP_065132	P08922	ROS_HUMAN	Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.	0	Fibronectin type-III 1.				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)		CTCCACAGAGGGGCCAGACTT	0.308000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									14			15		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107746996	107746996	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:107746996G>A	uc010ljo.1	-	6	697	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	LAMB4_uc003vey.2_Missense_Mutation_p.P205S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	205	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCAAAACTGGGATCCAAAACT	0.269000														45			8		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758652	121758652	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:121758652C>T	uc003ksw.1	+	3	426	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.R74C|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.R121C|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.R74C	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	74					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGTAAGTTCCGCCCAGTGAA	0.443000														65			25		0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995901	2995901	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:2995901G>A	uc010vrb.2	-	0	390	c.390C>T	c.(388-390)ctC>ctT	p.L130L		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	130					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TGGTGTAGTGGAGGGGGCAGC	0.547000														106			38		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20039425	20039425	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:20039425C>T	uc001umd.3	-	9	857	c.646G>A	c.(646-648)Gga>Aga	p.G216R	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.G105R|TPTE2_uc001ume.3_Missense_Mutation_p.G139R|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	216	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P215T(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AGGTCAAATCCATCCCTTGTG	0.308000														165			27		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42682973	42682973	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:42682973G>A	uc010ggo.3	+	4	726	c.686G>A	c.(685-687)gGa>gAa	p.G229E	TOX2_uc002xle.4_Missense_Mutation_p.G187E|TOX2_uc010ggp.3_Missense_Mutation_p.G187E|TOX2_uc002xlf.4_Missense_Mutation_p.G238E|TOX2_uc010zwk.2_Missense_Mutation_p.G107E	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCCGACCCAGGAAAAAAGGCC	0.537000														24			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720533	140720533	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:140720533C>T	uc003ljk.2	+	0	2180	c.1995C>T	c.(1993-1995)gcC>gcT	p.A665A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.A665A	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	667	Cadherin 6.				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)			TGGCCGTGGCCGACAGGATCC	0.682000														92			36		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121658222	121658222	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:121658222G>A	uc003eep.2	+	19	1941	c.1788G>A	c.(1786-1788)tgG>tgA	p.W596*	SLC15A2_uc011bjn.1_Nonsense_Mutation_p.W565*	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	596					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTCAGGCCTGGAAGATTGAAG	0.448000														81			36		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144854558	144854558	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:144854558G>A	uc021ouh.1	-	41	7214	c.6912C>T	c.(6910-6912)aaC>aaT	p.N2304N	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.N2304N|PDE4DIP_uc001elx.4_Silent_p.N2198N|PDE4DIP_uc001elv.4_Silent_p.N1311N	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2304					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTCTGCTGGTTGGCGTTCT	0.512000			T	PDGFRB	MPD									333			34		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847091	7847091	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:7847091G>A	uc010rbg.2	-	0	429	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGCCCACTAAGATGATGCAGA	0.517000														81			22		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142457350	142457350	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:142457350G>A	uc003wak.2	+	0	32	c.15G>A	c.(13-15)ctG>ctA	p.L5L	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Silent_p.L5L|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	5					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.L4F(1)|p.L4L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATCCACTCCTGATCCTTACCT	0.567000														169			38		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058026	152058026	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:152058026C>T	uc001ezo.1	-	2	2197	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	711							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTTGCTCTTCCTTTCTCTTC	0.443000														198			61		0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64880878	64880878	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:64880878G>A	uc001ocv.3	+	1	1151	c.554G>A	c.(553-555)gGg>gAg	p.G185E	TM7SF2_uc001oct.3_Missense_Mutation_p.G164E|TM7SF2_uc010rny.2_Missense_Mutation_p.G48E|TM7SF2_uc001ocu.3_Missense_Mutation_p.G164E|BC104003_uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	164					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCACCTGGGGGGAACTCAGGT	0.582000											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			18		0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10435402	10435402	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:10435402C>T	uc001aqx.4	+	47	5581	c.5379C>T	c.(5377-5379)gcC>gcT	p.A1793A	KIF1B_uc001aqw.4_Silent_p.A1747A|KIF1B_uc001aqy.3_Silent_p.A1767A|KIF1B_uc001aqz.3_Silent_p.A1793A|KIF1B_uc001ara.3_Silent_p.A1753A|KIF1B_uc001arb.3_Silent_p.A1779A	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1793	PH.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGTTGTATGCCTTCAACCCAC	0.458000														118			49		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33014668	33014668	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:33014668G>A	uc001wrq.3	+	3	979	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	AKAP6_uc010aml.3_Missense_Mutation_p.R267Q	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	270					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGCTTATCCGAAGTGTTGGT	0.468000														112			20		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66942342	66942342	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:66942342C>T	uc002eql.3	-	17	2637	c.2443G>A	c.(2443-2445)Gac>Aac	p.D815N	CDH16_uc010cdy.3_Missense_Mutation_p.D793N|CDH16_uc021tjx.1_Missense_Mutation_p.D776N|CDH16_uc002eqm.3_Missense_Mutation_p.D718N	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	815					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K814N(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGATCCGGGTCCTTCTTCCTT	0.587000														79			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577224	179577224	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:179577224G>A	uc021vsy.1	-	91	23918	c.23693C>T	c.(23692-23694)tCg>tTg	p.S7898L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4559L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8825	Ig-like 61.						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)			CCAGGTAACCGAAATGGGAGG	0.423000														37			21		0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34195737	34195737	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:34195737C>T	uc002hke.1	-	0	159	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	C17orf66_uc010wck.1_Intron|C17orf66_uc010wcl.1_Missense_Mutation_p.E4K|C17orf66_uc010wcm.1_Intron	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.	4							binding	p.Y3C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GTTGATTTTTCATAGGCCATC	0.527000														55			13		0	0	1	0	0
ZNF736	728927	broad.mit.edu	37	7	63809491	63809491	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:63809491G>A	uc011kdo.2	+	4	1572	c.1250G>A	c.(1249-1251)aGa>aAa	p.R417K		NM_001170905	NP_001164376	B4DX44	ZN736_HUMAN	Homo sapiens zinc finger protein 736 (ZNF736), mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						AGACATAAGAGAATTCATACT	0.383000														12			7		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23825111	23825111	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:23825111C>T	uc003sws.4	+	17	2230	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L	STK31_uc003swt.4_Silent_p.L698L|STK31_uc011jze.2_Silent_p.L721L|STK31_uc010kuq.3_Silent_p.L698L|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	721	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGGTGGTCTCCTTACAATGA	0.393000														147			49		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546576	11546576	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:11546576C>T	uc010shk.1	-	2	471	c.436G>A	c.(436-438)Gga>Aga	p.G146R		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTTGCCTCCTTGTGGGGGT	0.582000														560			82		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40412184	40412184	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:40412184G>A	uc002omp.4	-	6	3452	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1148	Cys-rich.|TIL 2.					extracellular region	protein binding	p.G1148S(1)		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)			ACAGCGGGCAGCCGTAGGAAC	0.612000														42			5		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356304	40356304	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:40356304G>A	uc003gva.1	+	4	1223	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	403					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	p.N402N(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CTTAAAGAACGACCTGGGCTG	0.483000														46			36		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768537	148768537	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:148768537G>A	uc003wfh.2	-	3	1464	c.1327C>T	c.(1327-1329)Cac>Tac	p.H443Y	ZNF786_uc011kuk.1_Missense_Mutation_p.H406Y|ZNF786_uc003wfi.2_Missense_Mutation_p.H357Y	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTCGAATGTGCTCCGTGAGT	0.632000														35			13		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627088	108627088	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:108627088G>A	uc002tdv.3	+	8	1790	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	SLC5A7_uc010ywm.2_Missense_Mutation_p.G258E|SLC5A7_uc010fjj.3_Missense_Mutation_p.G505E|SLC5A7_uc010ywn.2_Missense_Mutation_p.G392E	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	505					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTGAAAGTGGAACCTTGCCA	0.313000														59			23		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481834	142481834	+	Silent	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:142481834T>C	uc011ksq.2	+	3	596	c.513T>C	c.(511-513)tgT>tgC	p.C171C	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		AGGCTAAGTGTAAAGCCTCCT	0.512000														211			11		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427481	119427481	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:119427481C>T	uc001ehl.1	-	7	1680	c.1365G>A	c.(1363-1365)ggG>ggA	p.G455G	TBX15_uc009whj.1_Silent_p.G279G	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	561						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TGTGCTCCATCCCTGACGGCA	0.547000														60			34		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228434484	228434484	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:228434484C>T	uc009xez.1	+	12	4057	c.4013C>T	c.(4012-4014)tCc>tTc	p.S1338F	OBSCN_uc001hsn.3_Missense_Mutation_p.S1338F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1338	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCGGCTCTCCTTCCACCTG	0.592000														112			53		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477563	88477563	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:88477563C>T	uc021rxh.1	+	0	372	c.372C>T	c.(370-372)ttC>ttT	p.F124F	GPR65_uc001xvv.3_Silent_p.F124F	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	124					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						AGTTTTTTTTCCTAAGGACAA	0.418000														164			81		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216495	20216495	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:20216495G>A	uc010tkt.2	+	0	909	c.909G>A	c.(907-909)agG>agA	p.R303R		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGAAGCTGAGGATAAAACCAT	0.388000														96			6		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50497524	50497524	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:50497524C>T	uc001zxw.3	+	3	1168	c.936C>T	c.(934-936)atC>atT	p.I312I	SLC27A2_uc010bes.3_Silent_p.I259I|SLC27A2_uc001zxx.3_Silent_p.I77I	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	312					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTCAGTATATCGGTGAACTGC	0.428000														125			50		0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	396957	396957	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:396957G>A	uc002cgp.2	-	1	458	c.69C>T	c.(67-69)ccC>ccT	p.P23P	AXIN1_uc002cgq.2_Silent_p.P23P	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	23					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.P23S(2)|p.R22*(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAGGCACTGGGGGTCGGGGAG	0.562000														59			18		0	0	1	0	0
EPT1	85465	broad.mit.edu	37	2	26609386	26609386	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:26609386C>T	uc021veu.1	+	8	1224	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	EPT1_uc010eyl.1_Non-coding_Transcript	NM_033505		Q9C0D9	EPT1_HUMAN	Homo sapiens ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) (EPT1), mRNA.	359					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										TGGCCCACATCCATTATGGAG	0.428000														38			14		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907895	12907895	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:12907895T>C	uc010obf.2	-	1	474	c.248A>G	c.(247-249)aAc>aGc	p.N83S	LOC649330_uc009vno.2_Missense_Mutation_p.N83S	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	83							nucleic acid binding|nucleotide binding										TGCAGCCAGGTTAATATCTAC	0.488000														198			58		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691153	18691153	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:18691153C>T	uc001rdt.3	+	23	3380	c.3264C>T	c.(3262-3264)aaC>aaT	p.N1088N	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.N1129N|PIK3C2G_uc010sic.2_Silent_p.N907N	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1088	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTGGGAAAAACCCACAGCATT	0.403000														77			26		0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201970536	201970536	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:201970536C>T	uc001gxd.3	+	6	1266	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	RNPEP_uc001gxe.3_Missense_Mutation_p.P114S	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	413					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TAATGAGACCCCCTACGAGAA	0.493000														66			14		0	0	1	0	0
C2orf65	130951	broad.mit.edu	37	2	74842228	74842229	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:74842228_74842229GG>AA	uc002smy.3	-	2	405_406	c.288_289CC>TT	c.(286-291)ctccgc>ctTTgc	p.R97C	C2orf65_uc010ysa.2_Missense_Mutation_p.R97C|C2orf65_uc002smz.2_Missense_Mutation_p.R97C	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	97					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane		p.L96L(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						TGTAACATGCGGAGTTCTGAGA	0.470000														122			31		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70514348	70514348	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:70514348C>T	uc001vip.3	-	3	1632	c.838G>A	c.(838-840)Gac>Aac	p.D280N	KLHL1_uc010thm.2_Missense_Mutation_p.D219N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	280					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.E279*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCAATGGTGTCCTCTTTTAAT	0.383000														25			8		0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852997	15852997	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:15852997G>A	uc010xoq.2	+	0	795	c.795G>A	c.(793-795)aaG>aaA	p.K265K		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCAAACCCAAGGGCCTCCATT	0.507000														161			26		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242587	53242587	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:53242587G>A	uc001sbc.1	-	0	192	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	43	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCCCCAAAGGAATTAAGGCT	0.672000														19			10		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50122723	50122723	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:50122723C>T	uc010njr.2	-	19	2808	c.2764G>A	c.(2764-2766)Gaa>Aaa	p.E922K		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	922					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAGATGGTTTCTCCATCACAC	0.458000														19			22		0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060139	139060139	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:139060139G>T	uc010jfg.1	+	1	321	c.31G>T	c.(31-33)Gcc>Tcc	p.A11S	CXXC5_uc003let.2_Missense_Mutation_p.A11S	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	11					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCAGGATGCCGgcggcag	0.687000														10			4		5.9392e-07	5.96367e-07	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1272390	1272390	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:1272390C>T	uc001lta.3	+	30	14339	c.14280C>T	c.(14278-14280)acC>acT	p.T4760T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4760	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCTGTGGACCACGTGGACCG	0.582000														74			17		0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20906359	20906359	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:20906359G>A	uc002gym.4	-	12	1767	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	USP22_uc002gyn.4_Silent_p.F509F|USP22_uc002gyl.4_Silent_p.F416F	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	521					cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CGTATTCCAGGAACTGTTTGT	0.532000														193			93		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872205	51872205	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:51872205C>T	uc002xwo.3	+	1	3095	c.2208C>T	c.(2206-2208)gtC>gtT	p.V736V	TSHZ2_uc021wex.1_Silent_p.V733V	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	736					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATCTCAATGTCATGGACAAGC	0.542000														57			25		0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144862	25144862	+	RNA	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:25144862G>A	uc001upm.3	+	3		c.403G>A								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		GCCAGATAATGGAGCAGTGGT	0.408000														43			6		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58104641	58104641	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:58104641C>T	uc003djj.2	+	18	2953	c.2788C>T	c.(2788-2790)Cct>Tct	p.P930S	FLNB_uc010hne.2_Missense_Mutation_p.P930S|FLNB_uc003djk.2_Missense_Mutation_p.P930S|FLNB_uc010hnf.2_Missense_Mutation_p.P930S|FLNB_uc003djl.2_Missense_Mutation_p.P761S|FLNB_uc003djm.2_Missense_Mutation_p.P761S	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	930					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGATCCCATCCCTAAAAGCCC	0.478000														91			43		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432818	179432818	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:179432818G>A	uc021vsy.1	-	274	70562	c.70337C>T	c.(70336-70338)cCa>cTa	p.P23446L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P17141L|TTN_uc021vta.1_Missense_Mutation_p.P17074L|TTN_uc021vtb.1_Missense_Mutation_p.P16949L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24373	Fibronectin type-III 70.						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)			ATTGTTGACTGGTTCATGCCA	0.443000														80			10		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170040	58170040	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:58170040G>A	uc010rkf.2	-	0	843	c.843C>T	c.(841-843)ccC>ccT	p.P281P		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTTCAGCATGGGGATGACCA	0.433000														85			17		0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828154	43828154	+	Silent	SNP	T	C	C	rs140150445	by1000genomes	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:43828154T>C	uc004ada.2	+	8	1820	c.1410T>C	c.(1408-1410)gaT>gaC	p.D470D	CNTNAP3B_uc004acz.2_Non-coding_Transcript	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	470	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TGGTGGTGGATGATGACACAG	0.488000														21			3		0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110644384	110644384	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:110644384T>C	uc004epd.3	-	2	954	c.782A>G	c.(781-783)aAg>aGg	p.K261R	DCX_uc011msv.2_Missense_Mutation_p.K261R|DCX_uc004epe.3_Missense_Mutation_p.K180R|DCX_uc004epf.3_Missense_Mutation_p.K180R|DCX_uc004epg.3_Missense_Mutation_p.K180R	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	261	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGTAACCAGCTTGGGGCGCAC	0.532000														35			46		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929368	119929368	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:119929368G>A	uc001ehr.1	+	4	817	c.685G>A	c.(685-687)Gat>Aat	p.D229N	HAO2_uc001ehq.1_Missense_Mutation_p.D229N	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	229	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GACAAAAGAGGATGCAGAGTT	0.458000														98			66		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41416186	41416186	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:41416186C>T	uc002yyq.1	-	30	5654	c.5202G>A	c.(5200-5202)agG>agA	p.R1734R	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1734					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTTGGCATTCCTCCTGGTGG	0.592000														24			9		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73163924	73163924	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:73163924G>A	uc010izf.3	+	20	2474	c.2298_splice	c.e20-1	p.S766_splice	RGNEF_uc011csq.2_Splice_Site_p.S766_splice|RGNEF_uc021yam.1_Splice_Site_p.S766_splice|RGNEF_uc011csr.2_Splice_Site_p.S453_splice	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	766					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)		CTCTCTCCTAGCTTCAGGAGG	0.512000														13			7		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178548751	178548751	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:178548751C>T	uc003mjw.3	-	21	3191	c.3089_splice	c.e21-1	p.R1030_splice		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	1030					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)		TGAGATGTTTCCTAGAGGGAG	0.667000														142			41		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848616	73848616	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:73848616G>A	uc003xzb.3	+	2	1614	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	342					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TATTGTTTCTGGCCATGGGGA	0.473000														192			61		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205028255	205028255	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:205028255C>T	uc001hbr.3	+	5	800	c.531C>T	c.(529-531)atC>atT	p.I177I	CNTN2_uc001hbq.1_Silent_p.I68I|CNTN2_uc009xbi.3_Silent_p.I68I|CNTN2_uc001hbs.3_5'UTR	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	177	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAACTTCATCCCGACGGACG	0.587000														50			19		0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432642	73432642	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:73432642C>T	uc003dpl.1	-	9	3171	c.3075G>A	c.(3073-3075)atG>atA	p.M1025I	PDZRN3_uc011bgh.1_Missense_Mutation_p.M682I|PDZRN3_uc010hoe.1_Missense_Mutation_p.M723I|PDZRN3_uc021xaq.1_Missense_Mutation_p.M318I|PDZRN3_uc011bgf.1_Missense_Mutation_p.M742I|PDZRN3_uc011bgg.1_Missense_Mutation_p.M745I	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	1025							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTTCTTCATCATCTTTTTGT	0.458000														302			102		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133636	91133636	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:91133636G>A	uc004efk.2	+	1	3242	c.2397G>A	c.(2395-2397)gaG>gaA	p.E799E	PCDH11X_uc004efl.2_Silent_p.E799E|PCDH11X_uc010nmv.2_Silent_p.E799E|PCDH11X_uc004efm.2_Silent_p.E799E|PCDH11X_uc004efn.2_Silent_p.E799E|PCDH11X_uc004efo.2_Silent_p.E799E|PCDH11X_uc004efh.2_Silent_p.E799E|PCDH11X_uc004efj.1_Silent_p.E799E	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	799					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAAATACTGAGATAGCTGATG	0.443000														36			60		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2005561	2005561	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:2005561C>T	uc003wpx.4	+	3	497	c.359C>T	c.(358-360)tCc>tTc	p.S120F	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	120					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGGCACGCTCCCAGGCCCGC	0.617000														24			13		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119043650	119043650	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:119043650C>T	uc001pvu.3	+	3	396	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.3_Missense_Mutation_p.P61S|NLRX1_uc001pvw.3_Missense_Mutation_p.P61S|NLRX1_uc001pvx.3_Missense_Mutation_p.P61S	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	61					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGATAGCGCTCCCCCACCCGG	0.637000														77			17		0	0	1	0	0
VSTM2L	128434	broad.mit.edu	37	20	36560112	36560112	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:36560112G>A	uc002xhk.4	+	1	451	c.197G>A	c.(196-198)gGc>gAc	p.G66D		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	Homo sapiens V-set and transmembrane domain containing 2 like (VSTM2L), mRNA.	66	Ig-like.							p.G66S(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				TCCTTCCGCGGCAGCGGCTCC	0.622000														128			42		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130929789	130929789	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:130929789C>T	uc001uil.2	-	6	772	c.556G>A	c.(556-558)Gag>Aag	p.E186K	RIMBP2_uc001uim.3_Missense_Mutation_p.E94K	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	186	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGGGGTTCTCGTTCGGTCCA	0.542000														62			28		0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1372863	1372863	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:1372863C>T	uc001afs.3	+	2	857	c.631_splice	c.e2+1	p.D211_splice	VWA1_uc001afr.3_Splice_Site	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	Homo sapiens von Willebrand factor A domain containing 1 (VWA1), transcript variant 1, mRNA.	211	Fibronectin type-III 1.|VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCTCCATTCTCGGTATGCGGG	0.617000														45			28		0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973695	46973695	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:46973695G>C	uc002peq.4	-	1	904	c.598C>G	c.(598-600)Ccg>Gcg	p.P200A	PNMAL1_uc002per.4_Missense_Mutation_p.P200A	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	200										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCAAGCCCCGGTTCTTTCTTC	0.597000														80			15		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032973	82032973	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:82032973G>A	uc002fgu.3	-	2	1053	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	309					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GTGAGGAAGGGCTGGAAGTTG	0.448000														88			38		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30941224	30941224	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:30941224C>T	uc003xio.4	+	9	2067	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S	WRN_uc011lbd.1_Intron|WRN_uc011lbe.1_5'UTR	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	427	2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K.				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GCATTTATCTCCCAATGATAA	0.274000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					79			14		0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135382142	135382142	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:135382142C>T	uc003lbf.4	+	3	578	c.417C>T	c.(415-417)acC>acT	p.T139T	TGFBI_uc003lbg.4_5'UTR|TGFBI_uc003lbh.4_5'UTR|TGFBI_uc011cyb.2_5'UTR	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	139	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGCTTCACCATCTTCGCCC	0.622000														24			3		0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7951740	7951740	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:7951740G>A	uc002gju.3	+	13	2004	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	ALOX15B_uc002gjv.3_Missense_Mutation_p.E601K|ALOX15B_uc002gjw.3_Missense_Mutation_p.E556K|ALOX15B_uc010vun.2_Missense_Mutation_p.E618K|ALOX15B_uc010cnp.3_Missense_Mutation_p.E436K	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	630	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCACTTCACAGAGGAGGCCCC	0.662000														66			16		0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39433070	39433070	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:39433070G>A	uc003cjo.2	+	3	816	c.415G>A	c.(415-417)Gtc>Atc	p.V139I		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	Homo sapiens solute carrier family 25, member 38 (SLC25A38), nuclear gene encoding mitochondrial protein, mRNA.	139					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGTTGCAGGGGTCTGTATGTC	0.557000														199			67		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28918401	28918401	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:28918401G>A	uc002kwp.3	+	9	1601	c.1389G>A	c.(1387-1389)acG>acA	p.T463T		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	463	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.G462E(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACCAAGGAACGATTCTCTCTA	0.318000														86			24		0	0	1	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36557578	36557578	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:36557578C>T	uc001bzt.3	+	3	637	c.584C>T	c.(583-585)gCc>gTc	p.A195V		NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), nuclear gene encoding mitochondrial protein, mRNA.	195						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				ATCCTGCAGGCCCTGGCTGTG	0.632000														61			17		0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72338095	72338095	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:72338095C>T	uc009zrw.1	+	2	418	c.277C>T	c.(277-279)Cat>Tat	p.H93Y	TPH2_uc001swy.2_Missense_Mutation_p.H3Y	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	93	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAACATGGTTCATATTGAATC	0.408000														96			42		0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														12			4		0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96116935	96116935	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:96116935C>T	uc001kjq.1	-	3	592	c.504G>A	c.(502-504)aaG>aaA	p.K168K	NOC3L_uc009xuk.1_5'UTR	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	168						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ACTCACCTGGCTTCTCCCTAG	0.323000														80			46		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946003	144946003	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:144946003C>T	uc003zaa.1	-	0	1432	c.1419G>A	c.(1417-1419)cgG>cgA	p.R473R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	473						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCCCCTCCCCGGGGTCCCC	0.692000														21			12		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45386459	45386459	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:45386459G>A	uc001zun.3	-	33	4739	c.4536C>T	c.(4534-4536)atC>atT	p.I1512I	DUOX2_uc010bea.3_Silent_p.I1512I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1512					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	p.K1511M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGAACACCCCGATCTTGCGCA	0.572000														48			12		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182423343	182423343	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:182423343C>T	uc002unx.3	-	5	949	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.R257Q|CERKL_uc010zfm.2_Missense_Mutation_p.R239Q|CERKL_uc002unz.3_Missense_Mutation_p.R5Q|CERKL_uc002uoa.3_Intron|CERKL_uc002uob.3_Missense_Mutation_p.R5Q|CERKL_uc002uoc.3_Intron|CERKL_uc021vth.1_Missense_Mutation_p.R52Q|CERKL_uc021vti.1_Missense_Mutation_p.R5Q|CERKL_uc021vtj.1_Intron|CERKL_uc021vtk.1_Missense_Mutation_p.R5Q|CERKL_uc021vtl.1_Intron|CERKL_uc021vtm.1_Missense_Mutation_p.R52Q|CERKL_uc002uod.2_Missense_Mutation_p.R52Q|CERKL_uc002uoe.3_Missense_Mutation_p.R257Q	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	283	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity	p.R257Q(1)|p.R283Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AGTCAGGATTCGGTCTGTTTC	0.488000														48			21		0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385019	33385019	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:33385019G>A	uc003zst.3	-	7	1185	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V	AQP7_uc003zsu.1_3'UTR	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	338					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GTGCTCTAGGGCCATGGATTC	0.552000														131			73		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55361005	55361005	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:55361005C>T	uc010spd.1	-	4	405	c.272G>A	c.(271-273)gGg>gAg	p.G91E	TESPA1_uc001sgl.3_5'UTR|TESPA1_uc001sgm.3_5'UTR|TESPA1_uc010spb.1_5'UTR|TESPA1_uc010spc.1_5'UTR|TESPA1_uc001sgn.3_Missense_Mutation_p.G91E	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	91																	AAAGCTGGTCCCATGGCTGCA	0.483000														21			5		0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	121004775	121004775	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:121004775C>T	uc001typ.4	+	12	2516	c.2033C>T	c.(2032-2034)tCc>tTc	p.S678F	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.S589F	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	678					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTCCAGGTTCCCATGCAGGT	0.498000														85			28		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216288916	216288916	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:216288916G>A	uc002vfa.3	-	7	1435	c.1169C>T	c.(1168-1170)tCg>tTg	p.S390L	FN1_uc002vfc.3_Missense_Mutation_p.S390L|FN1_uc002vfe.3_Missense_Mutation_p.S390L|FN1_uc002vff.3_Missense_Mutation_p.S390L|FN1_uc002vfg.3_Missense_Mutation_p.S390L|FN1_uc002vfh.3_Missense_Mutation_p.S390L|FN1_uc002vfi.3_Missense_Mutation_p.S390L|FN1_uc002vfj.3_Missense_Mutation_p.S390L|FN1_uc002vfb.3_Missense_Mutation_p.S390L|FN1_uc002vfl.3_Missense_Mutation_p.S390L	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	390	Collagen-binding.|Fibronectin type-II 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.S390S(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCATAATTCGAAGTTGTGCT	0.512000														114			46		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52431033	52431033	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:52431033C>T	uc011bef.2	+	72	12021	c.11760C>T	c.(11758-11760)caC>caT	p.H3920H	DNAH1_uc003ddv.3_Silent_p.H778H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3985	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCATCTACCACCAGATCCCGC	0.617000														10			8		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76610427	76610427	+	RNA	SNP	C	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:76610427C>G	uc011kgn.1	+	0		c.289C>G			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		CCCTCACTCTCCGGGGCCCGG	0.672000														71			9		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520640	33520640	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:33520640C>T	uc002hjd.2	-	0	773	c.687G>A	c.(685-687)gtG>gtA	p.V229V		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	229						integral to membrane											CCAGCAGCCCCACCAAGCCAG	0.632000														99			34		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837370	12837370	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:12837370C>T	uc001aui.3	+	2	1107	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	360										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)		ACTGTGGGATCGTGGATTCCC	0.617000														127			45		0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34657318	34657318	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:34657318G>A	uc001zig.3	-	2	463	c.369C>T	c.(367-369)gtC>gtT	p.V123V	LPCAT4_uc010bav.1_Silent_p.V123V	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	123					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CAGCAACAAGGACAGGGGCTT	0.597000														36			21		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39002915	39002915	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:39002915G>A	uc002oit.3	+	62	9394	c.9264G>A	c.(9262-9264)gtG>gtA	p.V3088V	RYR1_uc002oiu.3_Silent_p.V3088V|RYR1_uc002oiv.1_Silent_p.V8V|RYR1_uc010xuf.1_Silent_p.V8V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3088					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	p.I3087V(1)		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)	CTGAGATCGTGAAGGCTGGCC	0.627000														63			12		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223176467	223176467	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:223176467C>T	uc001hnu.2	+	9	2054	c.1728C>T	c.(1726-1728)gtC>gtT	p.V576V		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	576	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATGCTTTTGTCCTGTGTGATG	0.413000														129			36		0	0	1	0	0
C4orf29	80167	broad.mit.edu	37	4	128951697	128951697	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:128951697C>T	uc021xrt.1	+	10	1429	c.1111C>T	c.(1111-1113)Caa>Taa	p.Q371*	C4orf29_uc003ift.3_Nonsense_Mutation_p.Q236*|C4orf29_uc003ifu.3_Nonsense_Mutation_p.Q236*|C4orf29_uc010inz.3_Nonsense_Mutation_p.Q202*|C4orf29_uc003ifv.3_Nonsense_Mutation_p.Q236*	NM_001039717	NP_001034806	Q0P651	CD029_HUMAN	Homo sapiens chromosome 4 open reading frame 29 (C4orf29), mRNA.	371						extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TATAGTGGTTCAAGCCAAAGA	0.368000														64			21		0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897297	61897297	+	Missense_Mutation	SNP	C	A	A	rs139863209		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:61897297C>A	uc001nsw.1	+	3	500	c.298C>A	c.(298-300)Cgc>Agc	p.R100S	INCENP_uc009ynv.3_Missense_Mutation_p.R100S|INCENP_uc009ynw.1_Missense_Mutation_p.R100S|INCENP_uc001nsx.1_Missense_Mutation_p.R100S	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	100			R -> H (in dbSNP:rs12281503).		chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAGCTCCCGACGCCTCCGCAG	0.677000														32			16		1.37285e-15	1.38997e-15	1	1	0
OR52L1	338751	broad.mit.edu	37	11	6007662	6007662	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:6007662G>A	uc001mcd.2	-	0	554	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCTCACCAGCACCACCATT	0.498000														49			10		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62371076	62371076	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:62371076G>A	uc003xuh.3	+	4	1276	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	318					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCTGGAGAGAGAATGCTCACC	0.473000														23			23		0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149937770	149937770	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:149937770G>A	uc001etn.3	-	4	892	c.536C>T	c.(535-537)aCc>aTc	p.T179I	OTUD7B_uc001eto.3_Missense_Mutation_p.T100I	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	179	Catalytic.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCTCTGAGAGGTGGGATCCAC	0.512000														32			14		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281742	140281742	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:140281742C>T	uc003etn.3	+	13	2492	c.2302C>T	c.(2302-2304)Cgg>Tgg	p.R768W		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	768					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.R768W(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCGGCGTTTCCGGATTAAGTG	0.567000										HNSCC(16;0.037)				48			20		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155792215	155792216	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:155792215_155792216GG>AA	uc001flz.2	-	3	846_847	c.749_750CC>TT	c.(748-750)acc>aTT	p.T250I	GON4L_uc001fly.1_Missense_Mutation_p.T250I|GON4L_uc009wrh.1_Missense_Mutation_p.T250I|GON4L_uc001fma.1_Missense_Mutation_p.T250I|GON4L_uc001fmc.3_Missense_Mutation_p.T250I|GON4L_uc001fmd.4_Missense_Mutation_p.T250I|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.T78I|GON4L_uc001fmf.3_5'Flank	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	250					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTTCCTCTTGGTACCCTTTTT	0.441000														122			61		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644584	82644584	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:82644584C>T	uc001ozt.3	+	5	2448	c.2204C>T	c.(2203-2205)tCc>tTc	p.S735F	C11orf82_uc010rsr.2_Missense_Mutation_p.S434F|C11orf82_uc010rss.2_Missense_Mutation_p.S434F|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	735					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CAAAAATTATCCTTGCAAAGC	0.368000														81			30		0	0	1	0	0
TBKBP1	9755	broad.mit.edu	37	17	45776734	45776734	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:45776734G>A	uc002ilu.3	+	4	1532	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	Homo sapiens TBK1 binding protein 1 (TBKBP1), mRNA.	228					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GAGCGGCGGCGGCTAGAAGAG	0.711000											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			4		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65415739	65415739	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:65415739G>A	uc003dmn.3	-	11	2149	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	MAGI1_uc003dmm.3_Silent_p.S541S|MAGI1_uc003dmo.3_Silent_p.S541S|MAGI1_uc003dmp.3_Silent_p.S541S|MAGI1_uc010hny.2_Silent_p.S426S	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	541	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CAATGGGGATGGACTGGAAGA	0.498000														47			19		0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118147032	118147032	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:118147032C>T	uc004eqw.3	+	8	1873	c.1842C>T	c.(1840-1842)atC>atT	p.I614I	LONRF3_uc004eqx.3_Silent_p.I573I|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Silent_p.I358I	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	614	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TCCTAGAGATCAGAAATGTTC	0.507000														55			73		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900333	13900333	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:13900333C>T	uc003jfd.2	-	14	2283	c.2241G>A	c.(2239-2241)agG>agA	p.R747R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	747	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACTGAAGTTCCTTTTGTATC	0.378000									Kartagener syndrome					67			43		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4673985	4673985	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:4673985T>A	uc021qcq.1	+	0	229	c.229T>A	c.(229-231)Tcc>Acc	p.S77T	OR51E1_uc001lzi.4_Missense_Mutation_p.S77T	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCCTCATCTCCACCTCATC	0.458000														60			16		0	0	1	0	0
ASB18	401036	broad.mit.edu	37	2	237172851	237172851	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:237172851C>T	uc010znh.2	-	0	138	c.138G>A	c.(136-138)gtG>gtA	p.V46V		NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 18 (ASB18), mRNA.	46					intracellular signal transduction			p.L45P(1)		large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CCAGTTCTATCACAGCGTCCA	0.512000														25			9		0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31141818	31141818	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:31141818G>A	uc002eay.3	+	8	1066	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	KAT8_uc002eax.3_Missense_Mutation_p.E350K|KAT8_uc002eaz.3_Missense_Mutation_p.E192K|KAT8_uc002eba.3_Missense_Mutation_p.E134K	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 1, mRNA.	350					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										CGGCTCCCCGGAGAAGCCACT	0.607000														44			4		0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57876665	57876665	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:57876665G>A	uc002yap.3	+	1	622	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	EDN3_uc002yao.1_Missense_Mutation_p.A85T|EDN3_uc002yaq.3_Missense_Mutation_p.A85T|EDN3_uc002yar.3_Missense_Mutation_p.A85T|EDN3_uc002yas.3_Missense_Mutation_p.A85T	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	85					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.A84E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GGAGCAGGCGGCCGAGGGGGC	0.652000														83			39		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270717	1270717	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:1270717C>T	uc002cks.3	+	34	7033	c.6785C>T	c.(6784-6786)aCc>aTc	p.T2262I	CACNA1H_uc002ckt.3_Missense_Mutation_p.T2256I|CACNA1H_uc002cku.3_Missense_Mutation_p.T957I|CACNA1H_uc010brj.3_Missense_Mutation_p.T973I|CACNA1H_uc002ckv.3_Missense_Mutation_p.T951I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2262					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)	GAGCACCTGACCGTCCCCAGC	0.687000														22			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084790	9084790	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9084790G>A	uc002mkp.3	-	0	7229	c.7025C>T	c.(7024-7026)tCa>tTa	p.S2342L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2342	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S2342L(3)		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						ATTATCCAGTGAAACTGTGCT	0.463000														21			18		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814011	137814011	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:137814011G>A	uc002tva.1	+	1	68	c.68G>A	c.(67-69)gGa>gAa	p.G23E	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.G54A(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGTGTACAGGAGACTGTGGT	0.483000														54			7		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113518989	113518989	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:113518989G>A	uc003ynu.3	-	28	4985	c.4826C>T	c.(4825-4827)cCg>cTg	p.P1609L	CSMD3_uc003yns.3_Missense_Mutation_p.P881L|CSMD3_uc003ynt.3_Missense_Mutation_p.P1569L|CSMD3_uc011lhx.2_Missense_Mutation_p.P1505L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1609	CUB 9.					integral to membrane|plasma membrane		p.P1609L(2)|p.P1569L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGCTATGCGGATATGGATG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				77			49		0	0	1	0	0
NAA10	8260	broad.mit.edu	37	X	153197787	153197787	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:153197787G>A	uc004fjm.1	-	4	434	c.323C>T	c.(322-324)tCc>tTc	p.S108F	NAA10_uc004fjn.1_Missense_Mutation_p.S108F|NAA10_uc011mzg.1_Missense_Mutation_p.S108F	NM_003491	NP_003482	P41227	NAA10_HUMAN	Homo sapiens N(alpha)-acetyltransferase 10, NatA catalytic subunit (NAA10), transcript variant 1, mRNA.	108	N-acetyltransferase.				DNA packaging|N-terminal protein amino acid acetylation|internal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GACATGCAGGGAGACATATTT	0.582000														15			7		0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112399743	112399743	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:112399743G>A	uc003kql.4	-	13	2567	c.2151C>T	c.(2149-2151)gcC>gcT	p.A717A	MCC_uc003kqj.4_Silent_p.A527A|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Silent_p.A527A	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	527					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCACGGCAAAGGCTCCCCCAC	0.622000														58			21		0	0	1	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36235043	36235044	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:36235043_36235044GG>AT	uc002obg.3	-	4	366_367	c.57_58CC>AT	c.(55-60)ttccgg>ttATgg	p.19_20FR>LW	IGFLR1_uc002obb.3_5'Flank|IGFLR1_uc002obc.3_5'Flank|IGFLR1_uc010xsy.2_5'Flank|IGFLR1_uc002obd.4_5'Flank|IGFLR1_uc010eej.3_5'UTR|U2AF1L4_uc002obe.3_Missense_Mutation_p.78_79FR>LW|U2AF1L4_uc002obf.3_Missense_Mutation_p.78_79FR>LW|U2AF1L4_uc002obh.1_5'UTR|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 1-like 4 (U2AF1L4), transcript variant 1, mRNA.	117					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTCCCTCCGGAACTGCAGGA	0.574000														31			11		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968386	28968386	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:28968386G>A	uc002kwr.2	+	3	408	c.273G>A	c.(271-273)ggG>ggA	p.G91G	DSG4_uc002kwq.2_Silent_p.G91G	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	91	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGGAGTAGGGATTGATCGAC	0.413000														40			21		0	0	1	0	0
MRPL3	11222	broad.mit.edu	37	3	131190074	131190074	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:131190074G>A	uc011blp.2	-	7	955	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	MRPL3_uc011blo.2_Nonsense_Mutation_p.Q122*|MRPL3_uc003eoh.3_Nonsense_Mutation_p.Q227*	NM_007208	NP_009139	P09001	RM03_HUMAN	Homo sapiens mitochondrial ribosomal protein L3 (MRPL3), nuclear gene encoding mitochondrial protein, mRNA.	227					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GTAGCAGGCTGGCCTTTAAAT	0.388000														110			39		0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32821443	32821443	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:32821443C>T	uc003ocg.3	-	0	306	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	TAP1_uc011dqi.2_5'Flank|PSMB9_uc011dqj.2_5'Flank|PSMB9_uc003sga.3_5'Flank	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	51					antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CGGTCCCGGCCGGGCCTGGGA	0.746000														10			6		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12460343	12460343	+	Missense_Mutation	SNP	G	C	C	rs140805551		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:12460343G>C	uc001atv.3	+	60	11881	c.11740G>C	c.(11740-11742)Gca>Cca	p.A3914P	VPS13D_uc001atw.3_Missense_Mutation_p.A3889P|VPS13D_uc001atx.3_Missense_Mutation_p.A3101P|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3913					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAAGTCAACGCAGTGAAGTT	0.537000														41			20		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649537	7649537	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:7649537C>T	uc001qsz.3	-	4	1099	c.971G>A	c.(970-972)gGa>gAa	p.G324E	CD163_uc001qta.3_Missense_Mutation_p.G324E|CD163_uc009zfw.2_Missense_Mutation_p.G324E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	324	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GTGTCCAAATCCCTTACTGGC	0.502000														48			14		0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100505506	100505506	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:100505506G>A	uc004egz.2	+	14	2004	c.1635G>A	c.(1633-1635)ctG>ctA	p.L545L	DRP2_uc011mrh.1_Silent_p.L467L	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	545					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCCGTCAGCTGGGTGAAGTGG	0.602000														26			40		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39550372	39550372	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:39550372C>T	uc002hwn.3	-	6	1200	c.1147G>A	c.(1147-1149)Gga>Aga	p.G383R	KRT31_uc010cxn.3_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	383	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				AGACAGGGTCCGATGGGCTTG	0.572000														56			21		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103183261	103183261	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:103183261G>A	uc022ajr.1	-	42	6748	c.6588C>T	c.(6586-6588)atC>atT	p.I2196I	RELN_uc022ajq.1_Silent_p.I2196I|RELN_uc010liz.3_Silent_p.I2196I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2196					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACTAGAAAGGATTCCACACT	0.383000														111			37		0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41930426	41930426	+	Silent	SNP	C	T	T	rs147021347	byFrequency	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:41930426C>T	uc002oqq.3	+	8	1290	c.1251C>T	c.(1249-1251)ccC>ccT	p.P417P	BCKDHA_uc002oqm.4_Silent_p.P451P|BCKDHA_uc002oqr.3_Silent_p.P416P|BCKDHA_uc010xvz.2_Silent_p.P420P	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	417					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	p.P417P(2)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						AGGAGATGCCCGCCCAGCTCC	0.617000														99			36		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816406	156816406	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:156816406C>T	uc021ygm.1	+	28	3552	c.3414C>T	c.(3412-3414)atC>atT	p.I1138I	CYFIP2_uc011ddn.2_Silent_p.I1113I|CYFIP2_uc011ddo.2_Silent_p.I943I|CYFIP2_uc021ygn.1_Silent_p.I1138I|CYFIP2_uc021ygo.1_Silent_p.I1138I|CYFIP2_uc003lwt.3_Silent_p.I1042I|CYFIP2_uc011ddp.2_Silent_p.I873I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1164					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)			TGTACTGCATCCCTGTGGGAA	0.622000														22			7		0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57759755	57759755	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:57759755T>A	uc002ixr.1	+	21	4021	c.3578T>A	c.(3577-3579)tTt>tAt	p.F1193Y	CLTC_uc002ixp.3_Missense_Mutation_p.F1189Y|CLTC_uc002ixq.1_Missense_Mutation_p.F1189Y	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	1189	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTAGAAGAATTTATCAATGGA	0.408000			T	"""ALK, TFE3"""	"""ALCL, renal """									78			35		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6386917	6386917	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:6386917G>A	uc002gdd.4	-	5	658	c.507C>T	c.(505-507)ttC>ttT	p.F169F	PITPNM3_uc010cln.3_Silent_p.F133F|PITPNM3_uc002gdc.4_5'Flank	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	169					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGGCAGCAGGGAAATGGGCTC	0.597000														35			14		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554778	19554778	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:19554778C>T	uc003cbk.1	+	12	2591	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L	KCNH8_uc010hex.1_Missense_Mutation_p.S260L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	799						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTGCAACTTTCAACTTTGAAT	0.423000														104			59		0	0	1	0	0
WDR73	84942	broad.mit.edu	37	15	85188820	85188820	+	Silent	SNP	G	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:85188820G>C	uc002bkw.2	-	6	781	c.765C>G	c.(763-765)ccC>ccG	p.P255P	WDR73_uc002bkv.2_Non-coding_Transcript|WDR73_uc002bkx.2_Non-coding_Transcript|WDR73_uc010upa.1_3'UTR|AL357213_uc002bky.1_Silent_p.R104R	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN	Homo sapiens WD repeat domain 73 (WDR73), mRNA.	255										cervix(1)|large_intestine(1)|lung(1)	3						AGAGATCCCGGGGGTCAAGAA	0.622000														15			7		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473026	22473026	+	RNA	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:22473026G>A	uc001yuj.2	-	6		c.302C>T								Parts of antibodies, mostly variable regions.																		ACTCTTGAGGGACGGGTTGTA	0.567000														463			44		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124132416	124132416	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:124132416C>A	uc003ehg.3	+	13	2567	c.2440C>A	c.(2440-2442)Cac>Aac	p.H814N	KALRN_uc010hrv.1_Missense_Mutation_p.H814N|KALRN_uc003ehf.1_Missense_Mutation_p.H814N|KALRN_uc011bjy.1_Missense_Mutation_p.H814N|KALRN_uc003ehh.1_Missense_Mutation_p.H160N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	814					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTGCAGCGCCACACAGAACG	0.547000														42			23		9.95505e-16	1.01071e-15	1	1	0
KLHL22	84861	broad.mit.edu	37	22	20819167	20819167	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:20819167G>A	uc002zsl.2	-	3	1247	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	KLHL22_uc011ahr.2_Nonsense_Mutation_p.R221*	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	364					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GACTCTGCTCGAAATCCTTGG	0.567000														97			30		0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74109782	74109782	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:74109782G>A	uc003kdm.3	-	5	596	c.553C>T	c.(553-555)Cta>Tta	p.L185L	FAM169A_uc010izm.3_Intron|FAM169A_uc003kdl.3_Silent_p.L3L	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA.	185										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TTCTTTCTTAGAAACATTGTA	0.398000														138			52		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75898493	75898493	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:75898493G>A	uc001vjl.1	-	10	2425	c.2078C>T	c.(2077-2079)tCc>tTc	p.S693F	TBC1D4_uc010aer.2_Missense_Mutation_p.S693F|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	693	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AAGACTGGAGGAAGAATTACT	0.413000														63			13		0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089176	220089176	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:220089176C>T	uc001hlw.3	-	3	1284	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.3_Missense_Mutation_p.G113E|SLC30A10_uc001hlx.3_Missense_Mutation_p.G133E	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	358					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		ATCTTGATATCCCCTGTCCTT	0.458000														134			51		0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826335	143826335	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:143826335A>T	uc011kua.2	+	0	130	c.130A>T	c.(130-132)Atc>Ttc	p.I44F		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GAATGGGGTCATCTTTGGGAT	0.498000														274			74		0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35441163	35441163	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:35441163G>A	uc021wcx.1	-	5	2741	c.2401C>T	c.(2401-2403)Ccc>Tcc	p.P801S	SOGA1_uc002xgd.1_Missense_Mutation_p.P563S	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	563										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTCCGGCTGGGGTCGGGCTTA	0.602000														20			13		0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62361448	62361448	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:62361448G>A	uc001ntq.2	-	17	2296	c.1906C>T	c.(1906-1908)Ctg>Ttg	p.L636L	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Silent_p.L463L	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	636					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TTCACCTTCAGGGGCAAGTTG	0.597000											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			6		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155530869	155530869	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:155530869G>A	uc003ioj.3	-	5	720	c.579C>T	c.(577-579)taC>taT	p.Y193Y	FGG_uc003iog.3_Silent_p.Y193Y	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	193	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTTTAATAAAGTAAAGCCCGC	0.408000														73			44		0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51094855	51094855	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:51094855G>A	uc021rsw.1	+	11	1467	c.1226G>A	c.(1225-1227)gGt>gAt	p.G409D	ATL1_uc001wyd.4_Missense_Mutation_p.G409D|ATL1_uc001wyf.4_Missense_Mutation_p.G409D|ATL1_uc001wye.4_Missense_Mutation_p.G409D|ATL1_uc021rsx.1_Missense_Mutation_p.G409D	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	409					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AAGAAGATGGGTGGGGAAGAA	0.438000														77			14		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769090	88769090	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:88769090C>T	uc001kee.2	+	11	2285	c.1081C>T	c.(1081-1083)Ctc>Ttc	p.L361F	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	361	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTTGGGAGTCCTCATGTGTAT	0.557000														188			128		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154267904	154267904	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:154267904G>A	uc003lvx.3	-	27	4476	c.4393C>T	c.(4393-4395)Ctc>Ttc	p.L1465F	GEMIN5_uc011ddk.1_Missense_Mutation_p.L1464F	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1465					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCAGGACGAGGCAGCACTCC	0.537000														64			24		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546416	11546416	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:11546416C>T	uc010shk.1	-	2	631	c.596G>A	c.(595-597)gGa>gAa	p.G199E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGG	0.597000														432			63		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67077281	67077281	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:67077281G>A	uc002jhw.1	-	36	4797	c.4622C>T	c.(4621-4623)tCc>tTc	p.S1541F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1541					transport	integral to membrane	ATP binding|ATPase activity	p.S1541Y(2)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAACAAAGAGGAATACCTGAA	0.373000														96			39		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480417	73480417	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:73480417G>A	uc003xzb.3	+	1	1036	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	150					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACAAATGAACGAAGAACTGAG	0.453000														161			45		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251398	43251398	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:43251398G>A	uc003ouq.1	+	13	3199	c.2920G>A	c.(2920-2922)Ggg>Agg	p.G974R	TTBK1_uc021yzs.1_Missense_Mutation_p.G262R	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	974						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGTGGAGGAGGGGGCCCGAGC	0.692000														40			16		0	0	1	0	0
C16orf42	115939	broad.mit.edu	37	16	1400180	1400180	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:1400180G>A	uc002cll.3	-	3	650	c.582C>T	c.(580-582)ttC>ttT	p.F194F	GNPTG_uc002clm.3_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	Homo sapiens chromosome 16 open reading frame 42 (C16orf42), mRNA.	194					rRNA processing					endometrium(1)|kidney(1)|lung(2)	4		Hepatocellular(780;0.0893)				TCAGGTCCAAGAAGCCCTTGC	0.587000														28			15		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092819	147092819	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:147092819G>A	uc003weu.2	+	9	2133	c.1617G>A	c.(1615-1617)agG>agA	p.R539R	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	539	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGCACAAAGGAAGCCGGGAA	0.433000										HNSCC(39;0.1)				258			51		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44747192	44747192	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:44747192C>T	uc003tln.3	+	21	2967	c.2808C>T	c.(2806-2808)ttC>ttT	p.F936F	OGDH_uc011kbx.2_Silent_p.F932F|OGDH_uc011kby.2_Silent_p.F786F|OGDH_uc003tlp.3_Silent_p.F947F|OGDH_uc011kbz.2_Silent_p.F731F	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	936					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TGTCGCCATTCCCCTTTGACC	0.547000														142			53		0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:53472914A>G	uc002qan.4	-	3		c.1587T>C								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		TTTGATTTTCAATTAAAAACC	0.338000														37			4		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043600	20043600	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:20043600G>T	uc002dgu.1	-	1	681	c.519C>A	c.(517-519)gaC>gaA	p.D173E	GPR139_uc010vaw.1_Missense_Mutation_p.D80E	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	173						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGCTGATGTAGTCTTCAGTCC	0.512000														62			26		4.26978e-12	4.31106e-12	1	1	0
STRC	161497	broad.mit.edu	37	15	43893104	43893104	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:43893104C>T	uc001zsf.3	-	24	4888	c.4810G>A	c.(4810-4812)Gag>Aag	p.E1604K	STRC_uc010bdl.3_Missense_Mutation_p.E831K|STRC_uc001zse.3_Missense_Mutation_p.E122K	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1604					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGGAGCTCCTCTGGCCGCAGT	0.557000														91			28		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617037	1617037	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:1617037C>T	uc002wfm.1	-	2	610	c.545G>A	c.(544-546)tGg>tAg	p.W182*	SIRPG_uc002wfn.1_Nonsense_Mutation_p.W182*|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	182	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding	p.W182R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ATTTTTGAACCATTTCAGGGT	0.567000														95			26		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28972152	28972152	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:28972152C>T	uc002kwr.2	+	7	989	c.854C>T	c.(853-855)tCg>tTg	p.S285L	DSG4_uc002kwq.2_Missense_Mutation_p.S285L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	285	Cadherin 3.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S285L(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGTTTAAGTTCGGAACTGATA	0.338000														88			35		0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148481127	148481127	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:148481127C>T	uc010lpg.3	+	10	1782	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L	CUL1_uc003wey.3_Missense_Mutation_p.P419L|CUL1_uc003wez.3_Missense_Mutation_p.P309L|CUL1_uc003wfa.3_Missense_Mutation_p.P80L	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	419					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGTAAATCCCCTGAGTTGCTG	0.423000														93			21		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3237330	3237330	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:3237330C>T	uc021xkv.1	+	62	8755	c.8610C>T	c.(8608-8610)acC>acT	p.T2870T		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2870					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGAGTCCACCCCCTCCATCA	0.577000														32			26		0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18246585	18246585	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:18246585C>T	uc002nhz.4	+	16	1819	c.1819C>T	c.(1819-1821)Cca>Tca	p.P607S		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	607	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TGAGGCCCTTCCAGCAGACGC	0.597000														12			5		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957568	111957568	+	Missense_Mutation	SNP	G	A	A	rs113984808	by1000genomes	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:111957568G>A	uc001eba.3	-	10	1611	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S	OVGP1_uc001eaz.3_Missense_Mutation_p.P481S|OVGP1_uc010owb.2_Missense_Mutation_p.P167S	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	519					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTTTCCCCAGGGGTCACAGAC	0.567000														55			47		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154324	5154324	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:5154324C>A	uc001qni.3	+	0	1240	c.1011C>A	c.(1009-1011)ttC>ttA	p.F337L		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	337						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GGTTCACCTTCGAGCTGCTCG	0.622000														118			21		2.4624e-09	2.48277e-09	1	1	0
USP31	57478	broad.mit.edu	37	16	23079893	23079893	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:23079893G>A	uc002dll.3	-	15	3533	c.3533C>T	c.(3532-3534)tCc>tTc	p.S1178F	USP31_uc002dlk.3_Missense_Mutation_p.S450F|USP31_uc010vca.2_Missense_Mutation_p.S481F|USP31_uc010bxm.3_Missense_Mutation_p.S466F	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1178	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CACCCGAGGGGAATTGGGTTT	0.652000														50			22		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78695301	78695301	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:78695301C>T	uc003dqe.2	-	20	3087	c.2879G>A	c.(2878-2880)gGg>gAg	p.G960E	ROBO1_uc003dqc.2_Missense_Mutation_p.G915E|ROBO1_uc003dqd.2_Missense_Mutation_p.G915E|ROBO1_uc003dqb.2_Missense_Mutation_p.G921E|ROBO1_uc010hoh.2_Missense_Mutation_p.G152E|ROBO1_uc011bgl.1_Missense_Mutation_p.G532E	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	960					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TAATTACCTCCCTCCACTGCT	0.348000														67			26		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73574739	73574739	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:73574739G>A	uc001jrx.4	+	67	10150	c.9760G>A	c.(9760-9762)Gga>Aga	p.G3254R	CDH23_uc001jsg.4_Missense_Mutation_p.G1017R|CDH23_uc001jsh.4_Missense_Mutation_p.G982R|CDH23_uc001jsi.4_Missense_Mutation_p.G982R|CDH23_uc001jsj.4_Missense_Mutation_p.G154R|CDH23_uc010qjr.2_Missense_Mutation_p.G119R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	3257					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						CGAGGAGCCAGGAGACCACAG	0.667000														15			9		0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228404	204228405	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:204228404_204228405GG>AT	uc001hau.3	-	7	1305_1306	c.988_989CC>AT	c.(988-990)ccg>ATg	p.P330M	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	330	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTCTTCAGGCGGGGGTACCCCC	0.619000														57			17		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54707203	54707203	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:54707203G>A	uc021smr.1	+	16	4865	c.4865G>A	c.(4864-4866)gGa>gAa	p.G1622E	UNC13C_uc021sms.1_Missense_Mutation_p.G1624E|UNC13C_uc002acl.3_Missense_Mutation_p.G454E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1624					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.N1622N(1)|p.G1624E(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGAACATGGGAAAAATAAGT	0.299000														49			19		0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55246750	55246750	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:55246750G>A	uc002qgu.1	+	5	998	c.980G>A	c.(979-981)gGg>gAg	p.G327E		NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	327						integral to membrane|plasma membrane	receptor activity	p.I326M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GTTCTGATTGGGACCTCAGTG	0.458000														76			35		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23219523	23219523	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:23219523C>T	uc009vqj.1	+	6	1720	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	EPHB2_uc001bge.3_Silent_p.F525F|EPHB2_uc001bgf.3_Silent_p.F525F|EPHB2_uc010odu.2_Silent_p.F525F	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	525	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGATGTACTTCCAGACCATGA	0.587000														86			24		0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134871889	134871889	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:134871889G>A	uc003vsp.2	-	13	1976	c.1914C>T	c.(1912-1914)ctC>ctT	p.L638L	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Silent_p.L227L	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	638										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CGGATACCTTGAGGCCACTCT	0.602000														94			20		0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207273178	207273178	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:207273178C>T	uc009xcd.3	+	6	1136	c.816C>T	c.(814-816)aaC>aaT	p.N272N	C4BPB_uc001hfi.3_Silent_p.N220N|C4BPB_uc001hfj.3_Silent_p.N221N|C4BPB_uc001hfl.3_Silent_p.N221N|C4BPB_uc001hfk.3_Silent_p.N220N|C4BPB_uc001hfm.3_Silent_p.N221N	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	221					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						CCATGGAGAACTTTATGCAAC	0.393000														119			35		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159554574	159554574	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:159554574A>G	uc003ipz.3	+	11	1180	c.917A>G	c.(916-918)aAg>aGg	p.K306R	RXFP1_uc010iqj.2_Missense_Mutation_p.K135R|RXFP1_uc010iqk.3_Missense_Mutation_p.K174R|RXFP1_uc011cja.2_Missense_Mutation_p.K201R|RXFP1_uc010iqo.3_Intron|RXFP1_uc011cjb.2_Intron|RXFP1_uc011cjc.2_Missense_Mutation_p.K225R|RXFP1_uc011cjd.2_Missense_Mutation_p.K225R|RXFP1_uc010iql.3_Missense_Mutation_p.K150R|RXFP1_uc011cje.2_Missense_Mutation_p.K333R|RXFP1_uc010iqm.3_Missense_Mutation_p.K273R|RXFP1_uc011cjf.2_Missense_Mutation_p.K176R|RXFP1_uc010iqn.3_Missense_Mutation_p.K252R	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	306						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGAAGTAATAAGATTGAAAAT	0.313000														39			23		0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169961392	169961392	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:169961392A>C	uc001ggv.3	-	10	1459	c.1188T>G	c.(1186-1188)aaT>aaG	p.N396K	KIFAP3_uc021pep.1_Missense_Mutation_p.N356K|KIFAP3_uc010ply.2_Missense_Mutation_p.N318K|KIFAP3_uc001ggw.2_Missense_Mutation_p.N352K|KIFAP3_uc010plx.2_Missense_Mutation_p.N98K	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	396					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTAGTTGTCATTGCCTAGGA	0.313000														35			11		0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435624	104435624	+	RNA	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:104435624G>A	uc003kok.3	+	0		c.450G>A								Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA.																		TCCTTAATTTGAAACAAGTGC	0.463000														39			18		0	0	1	0	0
ARRDC3	57561	broad.mit.edu	37	5	90670798	90670798	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:90670798G>A	uc003kjz.2	-	4	1051	c.811C>T	c.(811-813)Cca>Tca	p.P271S		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.	271					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GAAACTGGTGGAATTTTCAGC	0.403000														91			29		0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152097	117152097	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:117152097C>T	uc001pqt.3	+	8	1258	c.1213C>T	c.(1213-1215)Cgg>Tgg	p.R405W	RNF214_uc001pqu.3_Missense_Mutation_p.R405W|RNF214_uc010rxf.2_Missense_Mutation_p.R250W	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	405							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAATGGAGTTCGGATAATGAA	0.423000														31			11		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26166101	26166101	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:26166101G>A	uc003abz.1	+	4	1787	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T	MYO18B_uc003aca.1_Missense_Mutation_p.A394T|MYO18B_uc010guy.1_Missense_Mutation_p.A394T|MYO18B_uc010guz.1_Missense_Mutation_p.A394T|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.A26T	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	513						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATGGTATGAGGCAGAGAAAGT	0.512000														58			31		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39003011	39003011	+	Silent	SNP	C	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:39003011C>G	uc002oit.3	+	62	9490	c.9360C>G	c.(9358-9360)acC>acG	p.T3120T	RYR1_uc002oiu.3_Silent_p.T3120T|RYR1_uc002oiv.1_Silent_p.T40T|RYR1_uc010xuf.1_Silent_p.T40T	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3120					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)	AGGCGCGCACCCAGGTGAAAG	0.637000														38			20		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269135	63269135	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:63269135G>A	uc001xfx.3	-	8	1785	c.1734C>T	c.(1732-1734)taC>taT	p.Y578Y	KCNH5_uc001xfy.3_Silent_p.Y578Y|KCNH5_uc001xfz.1_Silent_p.Y520Y	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	578					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)		CTCCAGCATGGTAAATGAGGT	0.512000														92			10		0	0	1	0	0
PCDHB17	54661	broad.mit.edu	37	5	140536963	140536963	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:140536963G>A	uc003lis.3	+	0	1384	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		GTTCGTCCGCGAGAACAACAG	0.612000														169			52		0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69252815	69252815	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:69252815G>A	uc001sup.3	-	7	1038	c.977C>T	c.(976-978)cCa>cTa	p.P326L	CPM_uc001sur.3_Missense_Mutation_p.P326L|CPM_uc001suq.3_Missense_Mutation_p.P326L	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	326					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATTGGGTAATGGATTTCCATT	0.318000														89			34		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158281195	158281195	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:158281195G>A	uc003ipm.4	+	12	2650	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	GRIA2_uc011cit.2_Missense_Mutation_p.E684K|GRIA2_uc003ipl.4_Missense_Mutation_p.E731K|GRIA2_uc003ipk.4_Missense_Mutation_p.E684K|GRIA2_uc010iqh.1_Non-coding_Transcript|GRIA2_uc011ciu.1_Missense_Mutation_p.E41K|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_Missense_Mutation_p.E41K|GRIA2_uc011ciy.1_Missense_Mutation_p.E41K|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	731					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)	CACGATGAACGAGTACATTGA	0.507000														40			32		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211309	38211309	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:38211309G>A	uc010abx.3	-	10	2915	c.2680C>T	c.(2680-2682)Cga>Tga	p.R894*	TRPC4_uc010abv.3_Nonsense_Mutation_p.R469*|TRPC4_uc001uwt.3_Nonsense_Mutation_p.R805*|TRPC4_uc001uws.3_Nonsense_Mutation_p.R889*|TRPC4_uc010tey.2_Nonsense_Mutation_p.R748*|TRPC4_uc010abw.3_Nonsense_Mutation_p.R716*|TRPC4_uc010aby.3_Nonsense_Mutation_p.R740*	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	889	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GCTAATCCTCGAGATTCCAGT	0.463000														58			15		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34451165	34451165	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:34451165G>A	uc002xek.1	+	5	762	c.651G>A	c.(649-651)gaG>gaA	p.E217E	PHF20_uc002xei.1_Silent_p.E217E|PHF20_uc010gfo.1_Silent_p.E217E|PHF20_uc002xej.1_Silent_p.E101E|PHF20_uc002xel.1_Silent_p.E79E	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	217	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCAAGAACGAGAAGGAAGACA	0.413000														128			61		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33626514	33626515	+	Missense_Mutation	DNP	AC	GT	GT	rs2296344		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:33626514_33626515AC>GT	uc021ywr.1	+	4	661_662	c.437_438AC>GT	c.(436-438)aac>aGT	p.N146S		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	146	MIR 1.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTGGAGAAGAACGCCATGCGGG	0.614000														174			45		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112918598	112918598	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:112918598G>A	uc004bej.4	+	9	3188	c.2996_splice	c.e9-1	p.G999_splice	PALM2-AKAP2_uc004bek.4_Splice_Site_p.G999_splice|PALM2-AKAP2_uc011lwi.2_Splice_Site_p.G857_splice|PALM2-AKAP2_uc004bem.3_Splice_Site_p.G857_splice|PALM2-AKAP2_uc011lwj.2_Splice_Site_p.G768_splice|PALM2-AKAP2_uc004ben.3_Intron	NM_007203	NP_009134	Q9Y2D5	AKAP2_HUMAN	Homo sapiens PALM2-AKAP2 readthrough (PALM2-AKAP2), transcript variant 1, mRNA.	768							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TGTTGTTTCAGGGAAAATAGA	0.493000														48			36		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40275410	40275410	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:40275410A>T	uc003cka.3	+	11	2101	c.1966A>T	c.(1966-1968)Aca>Tca	p.T656S	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Intron|MYRIP_uc010hhw.3_Missense_Mutation_p.T567S|MYRIP_uc011ayz.2_Missense_Mutation_p.T469S|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	656	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CATCAATGCCACAGAGGAGTT	0.507000														62			27		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65267478	65267478	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:65267478C>A	uc001xht.3	-	6	923	c.872G>T	c.(871-873)gGc>gTc	p.G291V	SPTB_uc001xhr.3_Missense_Mutation_p.G291V|SPTB_uc001xhs.3_Missense_Mutation_p.G291V|SPTB_uc001xhu.3_Missense_Mutation_p.G291V	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	291					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			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)		TTGTACCTTGCCGACACGCTT	0.498000											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			4		1	1	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22782762	22782762	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr21:22782762G>A	uc002yld.2	+	9	1613	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	NCAM2_uc011acb.2_Missense_Mutation_p.G313E	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	455	Ig-like C2-type 5.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TATAGTACAGGAAGAAAGATG	0.294000														101			32		0	0	1	0	0
EXOSC7	23016	broad.mit.edu	37	3	45048923	45048923	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:45048923G>A	uc003coi.2	+	6	656	c.627G>A	c.(625-627)cgG>cgA	p.R209R	EXOSC7_uc003coh.1_Silent_p.R144R|EXOSC7_uc010his.1_Silent_p.R128R	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA.	209					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		TTGGCTATCGGCATGTGGTGG	0.612000														24			13		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116535379	116535379	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:116535379G>A	uc002tle.3	+	14	1363	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	DPP10_uc002tla.2_Missense_Mutation_p.E444K|DPP10_uc002tlb.2_Missense_Mutation_p.E394K|DPP10_uc002tlc.2_Missense_Mutation_p.E440K|DPP10_uc002tlf.2_Missense_Mutation_p.E437K	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	444					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCTGAGCACTGAATCTTCTCC	0.408000														57			28		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81610564	81610564	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:81610564T>C	uc001xvd.1	+	9	2318	c.2162T>C	c.(2161-2163)gTt>gCt	p.V721A		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	721					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			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)	GATATTCAGGTTCAAAAGGTT	0.488000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							101			41		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27677285	27677285	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:27677285C>T	uc002rku.3	-	32	3517	c.3466_splice	c.e32-1	p.G1156_splice	IFT172_uc010ezb.3_5'Flank	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1156					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGAATTTACCCTACAGGGAG	0.522000														89			20		0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661022	35661022	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:35661022C>T	uc003anl.3	+	4	815	c.641C>T	c.(640-642)cCc>cTc	p.P214L	HMGXB4_uc011amh.1_Missense_Mutation_p.P105L|HMGXB4_uc003ank.3_Missense_Mutation_p.P105L	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	214					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTCAATATCCCTCCCAACAA	0.443000														160			66		0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112352867	112352867	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:112352867C>T	uc001kze.3	+	17	1975	c.1849C>T	c.(1849-1851)Ccc>Tcc	p.P617S		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	617	Flexible hinge.				DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GAGGTACAATCCCAGATTTGA	0.383000														23			7		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19359662	19359662	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:19359662G>A	uc002nlz.3	+	13	3890	c.3791G>A	c.(3790-3792)tGg>tAg	p.W1264*	NCAN_uc002nma.3_Missense_Mutation_p.G20R	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1264	Sushi.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AATGGCAAGTGGGACAGGCCC	0.473000														63			10		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51712650	51712650	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:51712650G>A	uc003pah.1	-	49	8306	c.8030C>T	c.(8029-8031)cCa>cTa	p.P2677L	PKHD1_uc010jzn.1_Missense_Mutation_p.P660L|PKHD1_uc003pai.3_Missense_Mutation_p.P2677L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2677					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGAAGAAATGGAAAAGACAG	0.483000														106			34		0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81295874	81295874	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:81295874G>A	uc002fgn.1	+	3	675	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	BCMO1_uc002fgm.1_Missense_Mutation_p.E153K|BCMO1_uc010vnp.1_Missense_Mutation_p.E84K	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	153					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACAGACTCTGGAAACCCTGGA	0.507000														113			32		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108211414	108211414	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:108211414G>A	uc003dxa.1	-	9	921	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	288	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAGCCTGCTGGAAAATCACCC	0.378000														43			16		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138400102	138400102	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:138400102G>A	uc002tva.1	+	19	3754	c.3754G>A	c.(3754-3756)Gaa>Aaa	p.E1252K	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACCCAAGGAGAAGGACGGCC	0.512000														111			30		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76826089	76826089	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:76826089C>T	uc003ugb.3	-	1	867	c.827G>A	c.(826-828)gGa>gAa	p.G276E	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	276	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCTGAGGTTTCCAAAGCCTGC	0.473000														133			45		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745002	135745002	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:135745002C>T	uc002tue.1	-	6	1471	c.1440G>A	c.(1438-1440)agG>agA	p.R480R	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.R367R|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Silent_p.R208R|YSK4_uc002tui.4_Silent_p.R497R	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	480							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGGCACCATCCTACTCATTT	0.443000														91			23		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33491062	33491062	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:33491062C>T	uc002hja.3	+	8	1125	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	UNC45B_uc002hjb.3_Missense_Mutation_p.S343F|UNC45B_uc002hjc.3_Missense_Mutation_p.S343F|UNC45B_uc010cto.3_Missense_Mutation_p.S343F	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	343					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GATCTGCCATCCTGCCTGCCC	0.582000														163			50		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881601	228881601	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:228881601G>A	uc002vpq.2	-	6	4016	c.3969C>T	c.(3967-3969)atC>atT	p.I1323I	SPHKAP_uc002vpp.2_Silent_p.I1323I|SPHKAP_uc010zlx.1_Silent_p.I1323I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1323						cytoplasm	protein binding	p.I1323I(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATCCACAATGATTTTGTTCT	0.493000														53			30		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737262	4737262	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:4737262C>T	uc001qnb.4	-	3	1050	c.806G>A	c.(805-807)cGa>cAa	p.R269Q		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	269					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.R269L(3)|p.R269*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTCCTGCCCTCGAAACCTCTT	0.443000														59			27		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170043	58170043	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:58170043G>A	uc010rkf.2	-	0	840	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAGCATGGGGATGACCATTG	0.443000														84			13		0	0	1	0	0
VGLL1	51442	broad.mit.edu	37	X	135631080	135631080	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:135631080G>A	uc004ezy.3	+	2	717	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	MIR934_uc022cev.1_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CCGTCCTCAGGAATCTGCCGC	0.597000														43			63		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160109463	160109463	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:160109463G>A	uc001fvc.3	+	20	3006	c.2874G>A	c.(2872-2874)gaG>gaA	p.E958E	ATP1A2_uc001fvd.3_Silent_p.E677E	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	958					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTGGAGGAGACGGCGTTGG	0.572000														63			43		0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37309877	37309877	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:37309877T>C	uc021utk.1	-	4	1798	c.1369A>G	c.(1369-1371)Aag>Gag	p.K457E	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Missense_Mutation_p.K457E|ZNF790_uc021utl.1_Missense_Mutation_p.K457E|ZNF790_uc021utm.1_Missense_Mutation_p.K457E	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAAAGGTCTTTCCACATTCC	0.383000														122			21		0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48595380	48595380	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:48595380G>A	uc002efp.3	-	1	1411	c.1174C>T	c.(1174-1176)Caa>Taa	p.Q392*		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	392					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CTGTCTTCTTGGAATCTTTTA	0.353000														57			18		0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120418	47120418	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:47120418C>T	uc001wwg.3	-	0	611	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	174					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATTAAACTTCGTGAAGCCCC	0.507000														91			34		0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49920509	49920509	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:49920509C>T	uc002pnm.2	+	18	1738	c.1533C>T	c.(1531-1533)ccC>ccT	p.P511P	CCDC155_uc010emx.2_Silent_p.P482P	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	511						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TCTGCCTGCCCCCACAGCGGC	0.652000														15			3		0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35092452	35092452	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:35092452G>A	uc003zwd.3	-	6	1828	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Missense_Mutation_p.P41S	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	478					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGCAGAATGGAAAGCCTGGG	0.567000														70			42		0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6462112	6462112	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:6462112G>A	uc001mdg.2	-	1	144	c.83_splice	c.e1+1	p.P28_splice	HPX_uc009yfc.2_Splice_Site|HPX_uc010rai.1_Splice_Site_p.P28_splice	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	28	O-glycosylated at one, two and three sites.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TTTACTCACGGAGGAAGAGGG	0.572000														20			6		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725903	87725904	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:87725903_87725904CC>TT	uc003pli.3	+	1	1554_1555	c.851_852CC>TT	c.(850-852)acc>aTT	p.T284I	HTR1E_uc021zcg.1_Missense_Mutation_p.T284I	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	284					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)	ATCTCTAGCACCAGGGAACGGA	0.510000														120			90		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43316185	43316185	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:43316185G>C	uc003oux.3	-	5	3027	c.2949C>G	c.(2947-2949)aaC>aaG	p.N983K	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	983					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TATCGAAGATGTTAATTCCCA	0.428000														251			72		0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4511034	4511034	+	Missense_Mutation	SNP	C	T	T	rs144863882	byFrequency	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:4511034C>T	uc001lza.2	+	0	926	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAAGCAGATTCGTGAGTATGT	0.433000														107			27		0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61187119	61187119	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:61187119C>A	uc001xfc.3	-	1	968	c.908G>T	c.(907-909)gGa>gTa	p.G303V	SIX4_uc010app.1_Missense_Mutation_p.G295V	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	303						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATCCTCATGTCCCTTGCTGGA	0.468000														89			41		1.15183e-24	1.17432e-24	1	1	0
POLR1B	84172	broad.mit.edu	37	2	113308578	113308578	+	Splice_Site	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:113308578A>G	uc002thw.2	+	5	1342	c.762_splice	c.e5+1	p.K254_splice	POLR1B_uc010fkn.2_Splice_Site_p.K198_splice|POLR1B_uc002thx.2_Splice_Site_p.K115_splice|POLR1B_uc010fko.2_Splice_Site_p.K254_splice|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Splice_Site_p.K115_splice|POLR1B_uc010yxo.1_Splice_Site_p.K31_splice	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	254					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTTGCACTTAAGGTATGACTT	0.358000														173			61		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215884366	215884366	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:215884366G>A	uc002vew.3	-	11	1662	c.1442C>T	c.(1441-1443)aCc>aTc	p.T481I	ABCA12_uc002vev.3_Missense_Mutation_p.T163I|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	481					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCTATTTCGGTGCCCAGCTC	0.428000														45			10		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436024	56436024	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:56436024C>T	uc003xsf.3	+	2	1223	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	397						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCTCGGTTTTCCAGCTGTACT	0.512000														179			67		0	0	1	0	0
RABAC1	10567	broad.mit.edu	37	19	42461187	42461187	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:42461187G>A	uc002osf.3	-	3	536	c.452C>T	c.(451-453)gCc>gTc	p.A151V		NM_006423	NP_006414	Q9UI14	PRAF1_HUMAN	Homo sapiens Rab acceptor 1 (prenylated) (RABAC1), mRNA.	151						Golgi apparatus|cell junction|integral to membrane|synaptic vesicle	identical protein binding			central_nervous_system(1)|kidney(1)|prostate(1)	3						CCAGAAGACGGCCGAGCCCGC	0.657000														60			8		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171553	150171553	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:150171553G>A	uc003whj.3	+	3	1466	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	379						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)		ACGTTCTTAAGAAACAGCAAT	0.398000														248			53		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487730	248487730	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:248487730G>A	uc010pzk.2	-	0	141	c.141C>T	c.(139-141)ctC>ctT	p.L47L		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTAGATGAGGAGAACCATGA	0.527000														433			146		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891960	18891960	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:18891960G>A	uc001rdy.3	+	0	916	c.758G>A	c.(757-759)aGa>aAa	p.R253K	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	253					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GAAGCCCTGAGAAAAATTCTA	0.423000														67			24		0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367842	142367842	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:142367842C>T	uc022bby.1	-	0	182	c.182G>A	c.(181-183)gGa>gAa	p.G61E	GPR20_uc003ywf.3_Missense_Mutation_p.G61E	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	61						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GAAGATGGCTCCGTGCACCGC	0.657000														45			17		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89680035	89680035	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:89680035G>A	uc003hse.1	-	13	1804	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	FAM13A_uc003hsa.1_Silent_p.I3I|FAM13A_uc003hsb.1_Silent_p.I206I|FAM13A_uc003hsd.1_Silent_p.I206I|FAM13A_uc003hsc.1_Silent_p.I192I|FAM13A_uc011cdq.1_Silent_p.I178I|FAM13A_uc003hsf.1_Silent_p.I118I|FAM13A_uc003hsg.1_Silent_p.I3I|FAM13A_uc010ikr.1_Silent_p.I28I	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	532					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GATGCTCCTGGATCTTCATTG	0.517000														57			21		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40936475	40936475	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:40936475G>A	uc003jmh.3	+	4	430	c.316G>A	c.(316-318)Gat>Aat	p.D106N	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	106	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTGCAATGGGGATTCTGACTG	0.453000														37			12		0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30124747	30124747	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:30124747G>A	uc003npo.3	-	4	940	c.864C>T	c.(862-864)ctC>ctT	p.L288L	TRIM10_uc003npn.2_Silent_p.L288L	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	288						cytoplasm	zinc ion binding			ovary(1)	1						TCTGCAGCGGGAGGGCCTGCT	0.597000														81			20		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87656025	87656025	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:87656025C>T	uc003ydx.3	-	9	1180	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	CNGB3_uc010maj.3_Missense_Mutation_p.E240K	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	378					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCAATTCCTTCATAGTTTGAA	0.358000														126			42		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814281	123814281	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:123814281C>T	uc010sab.2	-	0	265	c.265G>A	c.(265-267)Gat>Aat	p.D89N		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G88V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ATGGTGTGATCCCCCGTGAGG	0.502000														65			10		0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8607335	8607335	+	Splice_Site	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:8607335T>C	uc003bqq.3	+	5	1053	c.939_splice	c.e5+2	p.E313_splice	LMCD1_uc011atd.2_Splice_Site_p.E240_splice|LMCD1_uc011ate.2_Splice_Site_p.E201_splice	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	313	LIM zinc-binding 2.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TGCGATGAGGTGGGAGATAGC	0.607000														11			3		0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102356587	102356587	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:102356587A>G	uc001yko.3	+	5	783	c.643A>G	c.(643-645)Aca>Gca	p.T215A	PPP2R5C_uc010txr.2_Missense_Mutation_p.T246A|PPP2R5C_uc001ykk.3_Missense_Mutation_p.T270A|PPP2R5C_uc010txt.2_Missense_Mutation_p.T205A|PPP2R5C_uc001ykn.3_Missense_Mutation_p.T215A|PPP2R5C_uc001ykp.3_Missense_Mutation_p.T215A|PPP2R5C_uc001ykq.3_Missense_Mutation_p.T113A	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	215					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TATTTATGAAACAGAGCATCA	0.393000														64			16		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618548	77618548	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:77618548C>T	uc003yau.2	+	1	2612	c.2225C>T	c.(2224-2226)tCt>tTt	p.S742F	ZFHX4_uc003yat.1_Missense_Mutation_p.S742F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S742F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	742						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTGGCCACTCTGCCCCAGCC	0.517000										HNSCC(33;0.089)				35			18		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31438984	31438984	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:31438984G>A	uc002hht.3	-	1	1683	c.810C>T	c.(808-810)atC>atT	p.I270I	ASIC2_uc002hhu.3_Silent_p.I219I	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	219					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGTCCAGCATGATCTCCAGCC	0.562000														77			29		0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138849938	138849938	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:138849938C>T	uc003vus.2	+	8	967	c.853C>T	c.(853-855)Cct>Tct	p.P285S	TTC26_uc011kqm.1_Missense_Mutation_p.P179S|TTC26_uc003vur.4_Missense_Mutation_p.P285S|TTC26_uc011kqn.1_Missense_Mutation_p.P285S|TTC26_uc011kqo.1_Missense_Mutation_p.P254S|TTC26_uc011kqp.1_Missense_Mutation_p.P180S|TTC26_uc003vut.2_Missense_Mutation_p.P145S|TTC26_uc011kqq.1_Missense_Mutation_p.P154S	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	285							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TGATGTCATTCCTGAAGCTAG	0.378000														36			9		0	0	1	0	0
GUSBP11	91316	broad.mit.edu	37	22	24056378	24056378	+	RNA	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:24056378A>G	uc011aiz.2	-	2		c.731T>C			GUSBP11_uc010gub.1_Non-coding_Transcript					Homo sapiens glucuronidase, beta pseudogene 11 (GUSBP11), non-coding RNA.																		TCTTACCAGAAGCCCTCACCA	0.562000														16			12		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316221	72316221	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:72316221G>A	uc010iic.3	+	9	1286	c.1169G>A	c.(1168-1170)aGg>aAg	p.R390K	SLC4A4_uc003hfy.3_Missense_Mutation_p.R390K|SLC4A4_uc010iib.3_Missense_Mutation_p.R390K|SLC4A4_uc003hfz.3_Missense_Mutation_p.R390K|SLC4A4_uc003hgc.4_Missense_Mutation_p.R346K|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.R268K|SLC4A4_uc003hgb.3_Missense_Mutation_p.R346K	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	390						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCAGCAATTAGGATAGAGCCT	0.438000														40			20		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139151309	139151309	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:139151309G>A	uc003yuy.3	-	17	3992	c.3821C>T	c.(3820-3822)tCc>tTc	p.S1274F	FAM135B_uc003yux.3_Missense_Mutation_p.S1175F|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1274										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGAGACCCGGATTTCTTCAG	0.398000										HNSCC(54;0.14)				96			21		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144068336	144068336	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:144068336C>T	uc003wel.3	+	5	3732	c.3614C>T	c.(3613-3615)tCa>tTa	p.S1205L	ARHGEF5_uc003wek.3_Missense_Mutation_p.S1205L|ARHGEF5_uc003wem.3_Missense_Mutation_p.S60L	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1205	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CTTTCAACTTCACTCCGGGCC	0.507000														155			16		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19413033	19413033	+	RNA	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:19413033G>A	uc010tcj.1	-	0		c.33077C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCACATCCATGCACTAAAAAG	0.294000														30			4		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3151782	3151782	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:3151782G>A	uc002klp.3	-	11	2087	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	MYOM1_uc002klq.3_Nonsense_Mutation_p.R585*	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	585	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCACAGCTCGAACTCGGAAG	0.488000											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			28		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57572190	57572190	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:57572190G>A	uc001snd.3	+	26	4876	c.4410G>A	c.(4408-4410)gaG>gaA	p.E1470E		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1470					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCACATGGAGGTGCTTCGGG	0.577000														45			15		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96242593	96242593	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:96242593G>A	uc001vmk.3	-	16	2635	c.1783C>T	c.(1783-1785)Cga>Tga	p.R595*	DZIP1_uc001vmj.3_Nonsense_Mutation_p.R71*|DZIP1_uc001vml.3_Nonsense_Mutation_p.R576*	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	595					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGGAATTCTCGAATTTGATGA	0.368000														103			31		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133925499	133925499	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:133925499G>T	uc003ytw.3	+	19	4408	c.4367G>T	c.(4366-4368)gGa>gTa	p.G1456V	TG_uc010mdw.3_Missense_Mutation_p.G215V	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1456					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTCAGGACGGACTGGGATGC	0.572000														38			20		8.00594e-06	8.0279e-06	1	1	0
OPLAH	26873	broad.mit.edu	37	8	145107471	145107471	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:145107471G>A	uc003zar.3	-	22	3266	c.3184C>T	c.(3184-3186)Ccc>Tcc	p.P1062S		NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	1062							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GAGCCTCGGGGAATGACCACG	0.726000														7			4		0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20919102	20919102	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:20919102G>A	uc002gym.4	-	5	1005	c.801C>T	c.(799-801)ctC>ctT	p.L267L	USP22_uc002gyn.4_Silent_p.L255L|USP22_uc002gyl.4_Silent_p.L162L	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	267					cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GGGCCGCGATGAGGAACTCGT	0.632000														17			5		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966991	41966991	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:41966991G>A	uc010skn.2	+	9	2418	c.2410G>A	c.(2410-2412)Gct>Act	p.A804T	PDZRN4_uc001rmq.4_Missense_Mutation_p.A546T|PDZRN4_uc009zjz.3_Missense_Mutation_p.A544T|PDZRN4_uc001rmr.3_Missense_Mutation_p.A431T	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	804							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGGTTGTAGCGCTGAAAGCAA	0.517000														133			37		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141986800	141986800	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:141986800C>T	uc002tvj.1	-	5	1774	c.802G>A	c.(802-804)Gga>Aga	p.G268R	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	268					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A267E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTAATCCTCCTGCTTTTGTT	0.294000										TSP Lung(27;0.18)				100			23		0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104868115	104868115	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:104868115G>A	uc010ruz.1	-	7	1272	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	CASP5_uc010rva.1_Missense_Mutation_p.R401W|CASP5_uc010rvb.1_Missense_Mutation_p.R343W|CASP5_uc010rvc.1_Missense_Mutation_p.R259W|CASP5_uc009yxh.2_Missense_Mutation_p.R183W|CASP5_uc010rvd.1_Missense_Mutation_p.R183W	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	401					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CTTACCTTCCGAAATATTTCC	0.388000														66			16		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30966427	30966427	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:30966427G>A	uc021vfn.1	-	11	1299	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.P419S|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	423					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AACACGGGTGGAAATTTCTCC	0.473000														87			15		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575513	12575513	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:12575513C>T	uc002mtv.4	-	3	1384	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	ZNF709_uc002mtw.4_Missense_Mutation_p.R376Q|ZNF709_uc002mtx.4_Missense_Mutation_p.R408Q	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTCATGCATTCGAAAGGAACT	0.408000														167			93		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1282618	1282618	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:1282618C>T	uc003jcb.1	-	2	1753	c.1695G>A	c.(1693-1695)gaG>gaA	p.E565E	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Silent_p.E565E|TERT_uc003jca.1_Silent_p.E565E|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Silent_p.E17E	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	565					DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.T564T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAAACGTGGTCTCCGTGACAT	0.522000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					82			25		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79470894	79470894	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:79470894G>A	uc001diq.4	-	1	189	c.33C>T	c.(31-33)tcC>tcT	p.S11S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	11					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.S11F(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCAACAAAGTGGAAAAAACCA	0.318000														57			13		0	0	1	0	0
AK022382	0	broad.mit.edu	37	10	52390189	52390189	+	RNA	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:52390189G>A	uc001jjf.1	+	1		c.882G>A								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		GATATCAATCGAACTGTAGTA	0.383000														27			11		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239025592	239025592	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:239025592G>A	uc002vxq.4	+	4	1014	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	ESPNL_uc010fyw.3_Intron	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	302										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTGCGGGATGAAGATGGTTA	0.657000														32			7		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227946898	227946898	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:227946898C>T	uc021vxr.1	-	21	1730	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	COL4A4_uc021vxs.1_Silent_p.K543K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	543	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGCACCATGCTTTCCCTTGG	0.413000														93			46		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14756895	14756895	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:14756895C>T	uc003byy.3	+	8	1865	c.1413C>T	c.(1411-1413)acC>acT	p.T471T	C3orf20_uc003byz.3_Silent_p.T349T|C3orf20_uc003bza.3_Silent_p.T349T|C3orf20_uc003bzb.1_5'UTR	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	471						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGACAGAGACCCTGCTTTCCC	0.562000														46			19		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11446665	11446665	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:11446665G>A	uc021zzo.1	-	20	4186	c.3934C>T	c.(3934-3936)Cga>Tga	p.R1312*	THSD7A_uc021zzn.1_Nonsense_Mutation_p.R1310*	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1312	TSP type-1 13.					integral to membrane		p.R1312Q(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTCACTGTTCGTCTTCGGATC	0.453000										HNSCC(18;0.044)				27			8		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49740938	49740938	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:49740938C>T	uc003cxh.3	+	20	1915	c.1829C>T	c.(1828-1830)tCg>tTg	p.S610L	RNF123_uc010hky.1_Missense_Mutation_p.S272L|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	610						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCCTCCTCTCGCACCTGCGG	0.622000											OREG0015571	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			7		0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453125	195453126	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:195453125_195453126CC>TT	uc010hzo.3	+	2	1264_1265	c.1138_1139CC>TT	c.(1138-1140)ccg>TTg	p.P380L	MUC20_uc010hzp.3_Missense_Mutation_p.P345L|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	551	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AGGAGCAGCTCCGGTCTCCATA	0.554000														65			8		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108688560	108688560	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:108688560A>G	uc003dxl.3	-	25	2647	c.2560T>C	c.(2560-2562)Tgc>Cgc	p.C854R	MORC1_uc011bhn.2_Missense_Mutation_p.C833R	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	854					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGCTCTGGGCACTGCTCCAGC	0.368000														84			26		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054506	67054506	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:67054506C>T	uc003dmy.3	+	2	1168	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	372										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGATGGCTATCCAAACCATCC	0.458000														110			53		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854502	18854502	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:18854502C>T	uc021qvx.1	-	9	1141	c.950_splice	c.e9-1	p.G317_splice	PLCZ1_uc001rdv.4_Splice_Site_p.G213_splice|PLCZ1_uc001rdw.4_Splice_Site_p.G58_splice|PLCZ1_uc001rdu.1_Missense_Mutation_p.G99E|PLCZ1_uc009zil.1_Splice_Site	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	317					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTGATTGTCTCCTAAAACAGA	0.433000														70			30		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092805	147092805	+	Missense_Mutation	SNP	G	A	A	rs76475298	by1000genomes	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:147092805G>A	uc003weu.2	+	9	2119	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	535	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAATTTATACGAAGTGGCACA	0.438000										HNSCC(39;0.1)				175			144		0	0	1	0	0
SLC25A24	29957	broad.mit.edu	37	1	108697741	108697741	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:108697741G>A	uc001dvn.4	-	5	900	c.686C>T	c.(685-687)tCa>tTa	p.S229L	SLC25A24_uc001dvm.3_Missense_Mutation_p.S210L	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	229					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CATTTTGTCTGATTTTGAACC	0.358000														62			28		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237308114	237308114	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:237308114C>T	uc002vwb.2	-	8	1207	c.1173G>A	c.(1171-1173)tgG>tgA	p.W391*	IQCA1_uc002vvz.1_Nonsense_Mutation_p.W384*|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Nonsense_Mutation_p.W343*	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	384	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GTGACATTTTCCATTTTTCGT	0.458000														70			15		0	0	1	0	0
CCDC164	92749	broad.mit.edu	37	2	26676394	26676394	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:26676394C>T	uc002rhg.2	+	13	1970	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	632										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						TGGAGGCCTTCGTCATGGGTC	0.612000														28			20		0	0	1	0	0
CECR6	27439	broad.mit.edu	37	22	17601208	17601208	+	Silent	SNP	G	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:17601208G>C	uc002zmb.2	-	0	1006	c.810C>G	c.(808-810)gcC>gcG	p.A270A	CECR6_uc002zma.2_Intron|BC021738_uc002zmc.3_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA.	270	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GGGGCGGCGCGGCGTGGTGGT	0.796000														8			5		0	0	1	0	0
AACSP1	729522	broad.mit.edu	37	5	178199631	178199631	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:178199631C>T	uc011dgk.2	-	4		c.257_splice	c.e4-1		AACSP1_uc011dgl.2_Splice_Site|AACSP1_uc003mjk.3_Splice_Site					Homo sapiens acetoacetyl-CoA synthetase pseudogene 1 (AACSP1), non-coding RNA.																		CAAAGGAGTCCACTGTGGAGA	0.607000														13			4		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16326932	16326932	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:16326932G>A	uc003nbt.3	-	7	2581	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	ATXN1_uc010jpi.3_Missense_Mutation_p.A537V|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	537	Self-association.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGTGACCAGGGCCTCAGGGTT	0.677000														104			13		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779926	159779926	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:159779926C>T	uc001fud.4	+	5	971	c.929C>T	c.(928-930)cCt>cTt	p.P310L	FCRL6_uc001fuc.2_Missense_Mutation_p.P317L|FCRL6_uc009wsz.1_Missense_Mutation_p.P215L|FCRL6_uc009wta.3_Missense_Mutation_p.P310L	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	310						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGGCTGGTTCCTTGGCTTCCT	0.512000														123			77		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54685258	54685258	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:54685258G>A	uc021smr.1	+	15	4720	c.4720G>A	c.(4720-4722)Gat>Aat	p.D1574N	UNC13C_uc021sms.1_Missense_Mutation_p.D1576N|UNC13C_uc002acl.3_Missense_Mutation_p.D406N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1576					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAAGAAACAGGATATTCCTCG	0.378000														64			17		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331595	107331595	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:107331595C>T	uc011lvo.2	+	0	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTCAGTTATCATCTTTGATT	0.443000														159			109		0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16470714	16470714	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:16470714G>A	uc021trd.1	-	1	950	c.332C>T	c.(331-333)tCc>tTc	p.S111F	ZNF287_uc002gqi.2_Missense_Mutation_p.S111F	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	104	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TGGATACTGGGACTTTACCCA	0.502000														99			37		0	0	1	0	0
CD70	970	broad.mit.edu	37	19	6586259	6586259	+	Silent	SNP	C	A	A	rs148252487		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:6586259C>A	uc010xjf.1	-	2	504	c.354G>T	c.(352-354)acG>acT	p.T118T	CD70_uc002mfi.3_Silent_p.T118T	NM_001252	NP_001243	P32970	CD70_HUMAN	Homo sapiens CD70 molecule (CD70), mRNA.	118					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						TGGAGGCCGTCGTGGAGGAGC	0.612000														38			23		2.41591e-17	2.45623e-17	1	1	0
abParts	0	broad.mit.edu	37	14	106800471	106800471	+	RNA	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:106800471C>T	uc021ser.1	-	592		c.16786G>A								Parts of antibodies, mostly variable regions.																		ACTACTCACTCCAGCCCCTTC	0.463000														28			6		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490229	37490229	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:37490229G>A	uc021ppc.1	+	30	2776	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N	ANKRD30A_uc001iza.1_Missense_Mutation_p.D893N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	949						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						AAAAGAAATGGATAAAATAAG	0.318000														42			37		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046973	9046973	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9046973G>A	uc002mkp.3	-	4	34862	c.34658C>T	c.(34657-34659)tCt>tTt	p.S11553F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11555	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						GTCTGTCCCAGAACTAGGGAC	0.517000														51			10		0	0	1	0	0
RBMY1B	378948	broad.mit.edu	37	Y	24052532	24052532	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrY:24052532C>T	uc004fuw.4	-	7	1006	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	RBMY1B_uc010nxc.1_Intron|RBMY1B_uc011nbg.2_Missense_Mutation_p.R285Q|RBMY1B_uc010nxd.3_Missense_Mutation_p.R285Q|RBMY1B_uc004fux.4_Missense_Mutation_p.R145Q|RBMY1B_uc011nbf.2_Missense_Mutation_p.R250Q	NM_001006121	NP_001006118	A6NDE4	RBY1B_HUMAN	Homo sapiens RNA binding motif protein, Y-linked, family 1, member B (RBMY1B), mRNA.	285	Arg-rich.				RNA splicing|mRNA processing|male gonad development|spermatogenesis	nucleus	RNA binding|nucleotide binding|protein binding										ACTTTCATCCCGACGAGAATG	0.383000														253			62		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155226333	155226333	+	Silent	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:155226333A>G	uc003inw.2	-	15	3946	c.3946T>C	c.(3946-3948)Tta>Cta	p.L1316L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1316	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCTCGAATAATTCAAATGAA	0.353000														15			15		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228169718	228169718	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:228169718G>A	uc002vom.2	+	46	4333	c.4171G>A	c.(4171-4173)Ggt>Agt	p.G1391S	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron|COL4A3_uc010fxf.2_5'Flank|COL4A3_uc021vxt.1_5'Flank	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1391	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)		TGGGCCAAGAGGTAAGCCAGG	0.473000														34			6		0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39832813	39832813	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:39832813G>A	uc003oow.3	+	4	530	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	DAAM2_uc010jxc.3_Missense_Mutation_p.E131K|DAAM2_uc003oox.3_Missense_Mutation_p.E131K	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	131	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAAGTCGTGGAAGACCTGAA	0.562000											OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			3		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44072484	44072484	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:44072484G>A	uc001cjr.3	+	21	4043	c.3703_splice	c.e21-1	p.K1235_splice	PTPRF_uc001cjs.3_Splice_Site_p.K1226_splice|PTPRF_uc001cju.3_Splice_Site_p.K613_splice|PTPRF_uc009vwt.3_Splice_Site_p.K795_splice|PTPRF_uc001cjv.3_Splice_Site_p.K695_splice|PTPRF_uc001cjw.3_Splice_Site_p.K461_splice	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1235					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGGGCCACAGAAGCGCTATG	0.627000														105			28		0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58002312	58002312	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:58002312C>T	uc001sow.1	+	5	1097	c.760C>T	c.(760-762)Cca>Tca	p.P254S	DTX3_uc001sox.1_Missense_Mutation_p.P247S|DTX3_uc001soy.1_Missense_Mutation_p.P247S|ARHGEF25_uc009zpy.3_5'Flank|ARHGEF25_uc001soz.1_5'Flank|ARHGEF25_uc001spb.3_5'Flank|ARHGEF25_uc001spa.3_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA.	254					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GGCTGAACACCCAAACCCAGG	0.612000														55			11		0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78192159	78192159	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:78192159T>A	uc001vki.3	+	26	1762	c.1592T>A	c.(1591-1593)aTt>aAt	p.I531N	SCEL_uc010thx.2_Missense_Mutation_p.I489N|SCEL_uc001vkj.3_Missense_Mutation_p.I511N	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	531	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GACAATCTTATTAAAGTGAAA	0.368000														118			27		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569287	73569287	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:73569287G>A	uc002joh.3	+	19	2807	c.2653G>A	c.(2653-2655)Gtg>Atg	p.V885M	LLGL2_uc002joi.3_Missense_Mutation_p.V885M|LLGL2_uc010dgg.2_Missense_Mutation_p.V885M|LLGL2_uc002joj.3_Missense_Mutation_p.V874M|LLGL2_uc010wsd.2_Missense_Mutation_p.V512M	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	885					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAAGCCCCAGGTGCGCTACAG	0.652000														64			34		0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2027386	2027386	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:2027386G>A	uc002cnu.1	+	15	1803	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.L453L|TBL3_uc010bsc.1_Silent_p.L434L|TBL3_uc010uvt.1_Silent_p.L36L|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	567					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	p.V566L(1)		breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CTTCTGTGCTGAAGGTGGCCT	0.657000														60			30		0	0	1	0	0
IL7	3574	broad.mit.edu	37	8	79710406	79710406	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:79710406G>A	uc003ybg.3	-	1	649	c.48C>T	c.(46-48)atC>atT	p.I16I	IL7_uc022awh.1_Silent_p.I16I|IL7_uc022awi.1_Silent_p.I16I|IL7_uc022awj.1_Silent_p.I16I|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	16					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						ACAGAACAAGGATCAGGGGAG	0.358000														53			34		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325201	77325201	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:77325201T>C	uc002ffc.4	-	20	3783	c.3364A>G	c.(3364-3366)Aac>Gac	p.N1122D		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1122					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCTACCATGTTGTACACTGGA	0.498000														120			48		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266729	107266729	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr9:107266729C>T	uc011lvm.2	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTACCTCTTCCTCAGCAATC	0.478000														86			63		0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541096	12541097	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:12541096_12541097GG>AA	uc002mtu.3	-	3	2087_2088	c.1889_1890CC>TT	c.(1888-1890)tcc>tTT	p.S630F		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	630					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GTCTATGCAAGGAACTGAGAGA	0.401000														131			28		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938469	38938469	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:38938469G>A	uc021wvy.1	-	13	2469	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	757					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	CACTAGGAAGGAGTGCCAGAA	0.488000														68			27		0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147736	100147736	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:100147736C>T	uc003knk.3	-	4	1223	c.895G>A	c.(895-897)Gga>Aga	p.G299R		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	299					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GGCCAGAATCCATACAGGTGA	0.398000														77			25		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144874420	144874420	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:144874420G>A	uc003yzp.1	-	31	4491	c.4484C>T	c.(4483-4485)gCc>gTc	p.A1495V	SCRIB_uc003yzn.1_Missense_Mutation_p.A228V|SCRIB_uc003yzo.1_Missense_Mutation_p.A1495V	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1495					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGCTTCTCGGCCTCCAGGGC	0.731000														11			4		0	0	1	0	0
FAM86HP	729375	broad.mit.edu	37	3	129821650	129821650	+	RNA	SNP	G	A	A	rs56088005	by1000genomes	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:129821650G>A	uc003ene.2	-	1		c.266C>T			FAM86HP_uc011ble.1_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA.																		GGTTGCGGACGGTAAAGGCCA	0.667000														111			8		0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35695516	35695516	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:35695516G>A	uc002xgi.3	-	4	644	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	RBL1_uc002xgj.1_Missense_Mutation_p.R189W|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	189					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCAATCATCCGAAAATTACCT	0.353000														66			23		0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70048327	70048327	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:70048327C>T	uc001jns.1	-	7	807	c.604G>A	c.(604-606)Gga>Aga	p.G202R	PBLD_uc001jnr.1_Missense_Mutation_p.G169R|PBLD_uc001jnt.1_Missense_Mutation_p.G202R|PBLD_uc001jnu.1_Missense_Mutation_p.G202R|PBLD_uc001jnv.1_3'UTR	NM_022129	NP_071412	P30039	PBLD_HUMAN	Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA.	202					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCAGGCTCTCCTTTAAGGGTA	0.458000														42			15		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32663547	32663547	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:32663547C>T	uc001mtv.3	-	12	1065	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	CCDC73_uc001mtw.1_Missense_Mutation_p.E331K	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	341								p.H340R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGTGCTTTTTCATGCTCATTT	0.249000														27			10		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103291146	103291146	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:103291146G>A	uc003ykr.2	-	43	6651	c.6196C>T	c.(6196-6198)Ctt>Ttt	p.L2066F	UBR5_uc003yks.2_Missense_Mutation_p.L2066F	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2066					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.L2066F(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CGGCCAAAAAGATCCTCCTTT	0.363000														211			79		0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206317619	206317619	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:206317619G>A	uc001hdu.3	+	0	161	c.43G>A	c.(43-45)Gga>Aga	p.G15R	CTSE_uc001hdv.3_Missense_Mutation_p.G15R|CTSE_uc010prs.2_5'UTR	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	15					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCTGGAGCTGGGAGAGGCCCA	0.597000														62			14		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77666905	77666905	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:77666905G>A	uc011bgk.2	+	22	4190	c.3547G>A	c.(3547-3549)Gat>Aat	p.D1183N	ROBO2_uc021xat.1_Missense_Mutation_p.D1195N|ROBO2_uc003dpy.4_Missense_Mutation_p.D1179N|ROBO2_uc003dpz.3_Missense_Mutation_p.D1183N|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.D306N	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1179					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTATCAGTTTGATATAGCAAA	0.418000														60			29		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024398	76024398	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:76024398G>A	uc010kbe.3	-	5	1689	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	FILIP1_uc003phy.1_Nonsense_Mutation_p.R384*|FILIP1_uc003phz.3_Nonsense_Mutation_p.R285*|FILIP1_uc003pia.3_Nonsense_Mutation_p.R384*|FILIP1_uc003pib.1_Nonsense_Mutation_p.R136*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	384										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACACGCTTTCGAAGATTTTCC	0.418000														194			42		0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53457582	53457582	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:53457582C>T	uc001sbp.3	+	28	4281	c.4146C>T	c.(4144-4146)caC>caT	p.H1382H	TENC1_uc001sbl.3_Silent_p.H1258H|TENC1_uc001sbn.3_Silent_p.H1392H|TENC1_uc001sbq.3_Silent_p.H780H|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Silent_p.H875H	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	1382					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						ATGTGTGTCACCTCTTTGCAG	0.532000														161			67		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936681	15936681	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:15936681G>A	uc003jfn.1	+	3	1343	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	288					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTGGAGGACGAAGGCCTGCA	0.622000														34			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048951	9048951	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9048951G>A	uc002mkp.3	-	4	32884	c.32680C>T	c.(32680-32682)Cca>Tca	p.P10894S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10896	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						GTCAGAATTGGAATAGTTGTA	0.483000														95			47		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	28807516	28807516	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:28807516T>A	uc004dby.2	+	1	564	c.56T>A	c.(55-57)tTg>tAg	p.L19*		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	19	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ACTCAGAGTTTGAAGGTTGTG	0.383000														23			28		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542786	28542786	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:28542786C>T	uc003nlo.3	-	2	2314	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	566					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGTTTTCTTCATACTGGGCT	0.403000														90			46		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411967	126411967	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:126411967C>T	uc003ifj.4	+	16	13990	c.13990C>T	c.(13990-13992)Ccc>Tcc	p.P4664S	FAT4_uc011cgp.2_Missense_Mutation_p.P2905S|FAT4_uc003ifi.1_Missense_Mutation_p.P2141S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4664					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGGCAATCCCCCATGCCCTT	0.512000														73			27		0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11407720	11407720	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:11407720C>A	uc003wty.3	+	5	1002	c.421C>A	c.(421-423)Cca>Aca	p.P141T		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	141	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GCTTCTTGCTCCAATCAACAA	0.552000														65			20		1.96895e-08	1.98251e-08	1	1	0
CDC25B	994	broad.mit.edu	37	20	3784082	3784083	+	Missense_Mutation	DNP	CC	TT	TT	rs141229949		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:3784082_3784083CC>TT	uc002wjn.3	+	13	2166_2167	c.1388_1389CC>TT	c.(1387-1389)gcc>gTT	p.A463V	CDC25B_uc010zqk.2_Missense_Mutation_p.A399V|CDC25B_uc010zql.2_Missense_Mutation_p.A385V|CDC25B_uc010zqm.2_Missense_Mutation_p.A372V|CDC25B_uc002wjl.3_Missense_Mutation_p.A351V|CDC25B_uc002wjm.3_Missense_Mutation_p.A351V|CDC25B_uc021waa.1_Missense_Mutation_p.A310V|CDC25B_uc002wjo.3_Missense_Mutation_p.A449V|CDC25B_uc002wjp.3_Missense_Mutation_p.A422V|CDC25B_uc002wjq.3_Missense_Mutation_p.A263V	NM_021873	NP_068659	P30305	MPIP2_HUMAN	Homo sapiens cell division cycle 25 homolog B (S. pombe) (CDC25B), transcript variant 1, mRNA.	463	Rhodanese.				G2/M transition of mitotic cell cycle|cell division|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GAACGCGACGCCGAGAGCTTCC	0.624000														58			26		0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85894911	85894911	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:85894911G>A	uc002sqj.3	-	2	222	c.122C>T	c.(121-123)tCc>tTc	p.S41F	SFTPB_uc002sqi.3_Missense_Mutation_p.S41F|SFTPB_uc002sqh.3_Missense_Mutation_p.S41F	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	29	Saposin A-type.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		p.S29F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						ACAGGCCAAGGATGAGGTGGT	0.577000														50			16		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57861986	57861986	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:57861986G>A	uc001snx.3	+	9	1381	c.1287G>A	c.(1285-1287)ctG>ctA	p.L429L	GLI1_uc021qzi.1_Silent_p.L388L|GLI1_uc009zpq.3_Silent_p.L301L	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	429					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AAAGCAGACTGACTGTGCCAG	0.612000														21			18		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439301	150439301	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:150439301C>T	uc022apw.1	+	5	826	c.686C>T	c.(685-687)cCa>cTa	p.P229L	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.P25L	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		TCTGCAACACCACCGGCATTG	0.453000														116			26		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11009763	11009763	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:11009763G>A	uc010oao.2	-	10	1208	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	C1orf127_uc001ars.2_Missense_Mutation_p.S264F|C1orf127_uc001arr.2_Missense_Mutation_p.S246F	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	254								p.G402W(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCACACCTGGGAGGAAGCAGC	0.647000														12			3		0	0	1	0	0
PCBD2	84105	broad.mit.edu	37	5	134294749	134294749	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:134294749G>A	uc010jdz.3	+	2	256	c.236G>A	c.(235-237)cGa>cAa	p.R79Q		NM_032151	NP_115527	Q9H0N5	PHS2_HUMAN	Homo sapiens pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 (PCBD2), mRNA.	79					positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process		4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding			kidney(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTATGTCCCGAGTTGCCCTA	0.413000														60			20		0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304477	115304477	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:115304477C>T	uc022cdd.1	+	0	944	c.944C>T	c.(943-945)cCg>cTg	p.P315L	AGTR2_uc004eqh.4_Missense_Mutation_p.P315L	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	315					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGCGTTAATCCGTTTCTGTAT	0.463000														62			77		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2946352	2946353	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:2946352_2946353CT>TC	uc003smv.3	-	24	3718_3719	c.3384_3385AG>GA	c.(3382-3387)gtagag>gtGAag	p.E1129K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1129	Guanylate kinase-like.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCAGCTCCTCTACGCTGCCCC	0.663000			Mis		DLBCL									65			23		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718592	73718592	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:73718592C>T	uc002sje.1	+	9	9614	c.9503C>T	c.(9502-9504)tCc>tTc	p.S3168F	ALMS1_uc002sjf.1_Missense_Mutation_p.S3126F|ALMS1_uc002sjg.3_Missense_Mutation_p.S2556F|ALMS1_uc002sjh.1_Missense_Mutation_p.S2556F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3168					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGGACATTCCAATCCAGAG	0.403000														49			27		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101735415	101735415	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:101735415C>T	uc003knn.3	-	9	1830	c.1658G>A	c.(1657-1659)gGa>gAa	p.G553E	SLCO6A1_uc003kno.3_Missense_Mutation_p.G300E|SLCO6A1_uc003knp.3_Missense_Mutation_p.G553E|SLCO6A1_uc003knq.3_Missense_Mutation_p.G491E	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	553						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGTTATTAATCCTTCTTTAAT	0.323000														62			30		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216091	20216091	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:20216091T>G	uc010tkt.2	+	0	505	c.505T>G	c.(505-507)Ttc>Gtc	p.F169V		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P168S(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGCTGCCTTTCTGTGGGCC	0.512000														111			9		0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080470	194080470	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:194080470G>A	uc003ftt.3	-	2	1446	c.1321C>T	c.(1321-1323)Cgc>Tgc	p.R441C	LRRC15_uc003ftu.3_Missense_Mutation_p.R435C|LRRC15_uc021xiy.1_Missense_Mutation_p.R435C	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	435	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGCCAGTTGCGGAGCGGAAGG	0.562000														28			11		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					90			71		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166897748	166897748	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:166897748C>T	uc002udo.4	-	14	2635	c.2408G>A	c.(2407-2409)gGa>gAa	p.G803E	SCN1A_uc010fpk.3_Missense_Mutation_p.G775E|SCN1A_uc021vsb.1_Missense_Mutation_p.G792E	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	803						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TACCAAGTTTCCTACTGTAAG	0.363000														68			13		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49227424	49227424	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:49227424C>T	uc010zyt.2	-	5	643	c.392G>A	c.(391-393)aGg>aAg	p.R131K	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.R127K|FAM65C_uc002xvn.1_Missense_Mutation_p.R127K	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	127										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCGAATGTGCCTTTCCACACA	0.597000														99			6		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830235	13830235	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:13830235G>A	uc003jfd.2	-	36	6191	c.6149C>T	c.(6148-6150)tCc>tTc	p.S2050F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2050	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAATAATGGAAATTTGCTG	0.398000									Kartagener syndrome					71			19		0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26937530	26937530	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:26937530G>A	uc003acw.3	-	2	408	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	TPST2_uc003acx.3_Nonsense_Mutation_p.Q23*|TPST2_uc011akf.1_Nonsense_Mutation_p.Q23*	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	23					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGTCCCAGCTGAACCGCCAGC	0.741000														22			4		0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19456163	19456163	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:19456163C>T	uc002nmk.4	+	11	1245	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	MAU2_uc002nml.4_Silent_p.F8F|MAU2_uc010ecd.3_Silent_p.F8F|MAU2_uc010ece.3_5'Flank	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.	402					cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AAGCCCAGTTCACCACGGCCC	0.642000														79			27		0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665209	6665209	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:6665209C>T	uc002mfk.2	-	4	833	c.451G>A	c.(451-453)Ggt>Agt	p.G151S	TNFSF14_uc002mfj.2_Missense_Mutation_p.G115S	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	151					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.G150G(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CAGCCCACACCGCCCAGCTGC	0.657000														45			15		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100417783	100417783	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:100417783G>A	uc003uwn.1	-	4	1435	c.944C>T	c.(943-945)cCc>cTc	p.P315L	EPHB4_uc003uwm.1_Missense_Mutation_p.P222L|EPHB4_uc010lhj.1_Missense_Mutation_p.P315L|EPHB4_uc011kkf.1_Missense_Mutation_p.P315L|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.P315L	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	315	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCACCCCGGGGGTCTGTGCG	0.642000														66			26		0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33409113	33409113	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:33409113C>T	uc011dri.2	+	11	2272	c.2077C>T	c.(2077-2079)Cat>Tat	p.H693Y	SYNGAP1_uc010juy.3_Missense_Mutation_p.H678Y|SYNGAP1_uc010juz.3_Missense_Mutation_p.H405Y	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	693					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTCCACACTGCATGCCCTACT	0.552000														76			6		0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44056249	44056249	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:44056249G>A	uc002owt.2	-	8	1122	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	XRCC1_uc010xwp.1_Silent_p.F303F	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	334	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GCTCGGAGCGGAAGGGGTTCT	0.647000								Other BER factors						60			11		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74637424	74637424	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:74637424C>T	uc002axt.2	-	2	741	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	CYP11A1_uc002axs.2_Missense_Mutation_p.G38R|CYP11A1_uc010bjm.1_Missense_Mutation_p.G38R|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.3_Missense_Mutation_p.G196R	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	196					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTGATGTCCCCCGAGTAATTT	0.582000														57			15		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379123	32379123	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:32379123C>T	uc002wzy.3	+	14	2385	c.2365C>T	c.(2365-2367)Ccc>Tcc	p.P789S	ZNF341_uc002wzx.3_Missense_Mutation_p.P782S|ZNF341_uc010geq.3_Missense_Mutation_p.P699S|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Missense_Mutation_p.P216S	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGAGGCTGTCCCCGGCAAGCC	0.692000														36			9		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679259	176679259	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:176679259G>A	uc001gkz.3	+	10	4762	c.3598G>A	c.(3598-3600)Gaa>Aaa	p.E1200K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1200					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCCTCTCATGAAGACAAGAA	0.443000														79			46		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115218614	115218614	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:115218614G>A	uc001efe.2	-	10	1546	c.1498C>T	c.(1498-1500)Cgt>Tgt	p.R500C	AMPD1_uc001eff.2_Missense_Mutation_p.R496C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	467					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTCTTGGAACGGAACACATCA	0.428000														86			41		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160102	132160102	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:132160102G>A	uc011mvf.2	-	0	2199	c.2147C>T	c.(2146-2148)cCt>cTt	p.P716L	USP26_uc010nrm.1_Missense_Mutation_p.P716L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	716					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATCTTTAGTAGGATTGATAAT	0.348000														29			34		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099306	133099306	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:133099306C>T	uc003epi.3	+	3	1021	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	TMEM108_uc003eph.3_Nonsense_Mutation_p.Q251*|TMEM108_uc003epj.1_Nonsense_Mutation_p.Q251*|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	251						integral to membrane		p.Q251H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACCACAGCCCCAGACAGTGGC	0.627000														33			9		0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119244171	119244171	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:119244171G>A	uc001pwm.4	-	1	315	c.20C>T	c.(19-21)aCc>aTc	p.T7I	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	7	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GCGCTTCAGGGTGGAGGAGAG	0.602000														19			4		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52570057	52570057	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr20:52570057C>T	uc002xws.2	-	10	1932	c.1594G>A	c.(1594-1596)Gac>Aac	p.D532N	BCAS1_uc010zza.1_Missense_Mutation_p.D198N|BCAS1_uc010zzb.1_Missense_Mutation_p.D458N|BCAS1_uc010gim.2_Missense_Mutation_p.D388N|BCAS1_uc002xwt.2_Missense_Mutation_p.D518N|BCAS1_uc010gil.1_Missense_Mutation_p.D454N	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	532						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GAGTTCGTGTCCACCGTGGCC	0.542000														102			32		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725800	55725800	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:55725800G>A	uc010spj.2	+	0	316	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CTTCATGGGGGTGACTGAATT	0.433000														134			59		0	0	1	0	0
ANP32AP1	723972	broad.mit.edu	37	15	35530034	35530034	+	RNA	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:35530034G>A	uc001ziy.3	+	0		c.508G>A								Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA.																		CCTggaggaggaggaggagga	0.577000														33			12		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155102325	155102325	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:155102325G>A	uc002tyt.4	+	5	791	c.687_splice	c.e5-1	p.R229_splice	GALNT13_uc002tyr.4_Splice_Site_p.R229_splice|GALNT13_uc010foc.1_Splice_Site_p.R48_splice|GALNT13_uc010fod.3_Splice_Site	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	229						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTCTCTGCAGGAAAACGGTTG	0.318000														87			17		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126303	121126303	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:121126303C>T	uc003eec.4	+	23	3013	c.2873C>T	c.(2872-2874)gCc>gTc	p.A958V	STXBP5L_uc011bji.2_Missense_Mutation_p.A934V	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	958					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAAAAACAAGCCAAAGTCTTC	0.388000														124			56		0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73046564	73046564	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:73046564C>T	uc001jro.3	+	4	1122	c.671C>T	c.(670-672)aCc>aTc	p.T224I	UNC5B_uc001jrp.3_Missense_Mutation_p.T224I	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	224	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCAACTATACCTGCGTGGCC	0.627000														107			74		0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169104	50169104	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:50169104C>T	uc002ppa.3	+	0	706	c.24C>T	c.(22-24)ttC>ttT	p.F8F	IRF3_uc002poy.2_5'UTR|IRF3_uc021uxp.1_5'UTR|IRF3_uc021uxq.1_5'UTR|IRF3_uc002pot.2_5'UTR|IRF3_uc021uxr.1_5'UTR|IRF3_uc021uxs.1_5'UTR|IRF3_uc002pow.3_5'UTR|IRF3_uc021uxo.1_5'UTR|IRF3_uc002pou.3_5'UTR|IRF3_uc010end.2_5'UTR|IRF3_uc002poz.1_5'UTR|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Silent_p.F8F	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	8					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGGGCTGTTCCCGCCCCTAT	0.542000														48			25		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138030126	138030126	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:138030126C>T	uc002tva.1	+	9	2197	c.2197C>T	c.(2197-2199)Cga>Tga	p.R733*	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Nonsense_Mutation_p.R623*	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAAACAGTCTCGATACAGAAT	0.398000														26			11		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31604561	31604561	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:31604561G>A	uc002rnv.1	-	11	1149	c.1070C>T	c.(1069-1071)cCc>cTc	p.P357L		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	357	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTCGGAGATGGGGCTGGCAGT	0.582000														17			5		0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35044942	35044942	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:35044942G>A	uc001zis.1	-	1	703	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	235					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.P235P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTGATGCAGGGGTAGCGGTTA	0.478000														47			18		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169336585	169336585	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:169336585G>A	uc021xuh.1	-	20	3063	c.2953C>T	c.(2953-2955)Ccc>Tcc	p.P985S	DDX60L_uc003irq.4_Missense_Mutation_p.P985S|DDX60L_uc003irr.1_Missense_Mutation_p.P985S|DDX60L_uc003irs.1_Missense_Mutation_p.P680S	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	985							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GCAGCACAGGGATGAAAATGA	0.348000														22			10		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7808948	7808948	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:7808948A>G	uc002gjd.2	+	26	4327	c.4325A>G	c.(4324-4326)cAg>cGg	p.Q1442R	CHD3_uc002gje.2_Missense_Mutation_p.Q1383R|CHD3_uc002gjf.2_Missense_Mutation_p.Q1383R|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1383					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGGCGTAGACAGTCAAAGAGG	0.567000														8			6		0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37603308	37603308	+	Missense_Mutation	SNP	C	T	T	rs149879896	byFrequency	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr22:37603308C>T	uc003ara.3	-	1	597	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	SSTR3_uc003arb.3_Missense_Mutation_p.V179M|SSTR3_uc021wos.1_Missense_Mutation_p.V179M	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	179					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GAGAAGACCACCACGGGCAGC	0.731000														27			7		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765601	77765601	+	Silent	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:77765601T>C	uc003yau.2	+	9	6831	c.6444T>C	c.(6442-6444)ttT>ttC	p.F2148F	ZFHX4_uc003yaw.1_Silent_p.F2103F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGGCTTATTTTGACATTAATA	0.398000										HNSCC(33;0.089)				66			19		0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270413	113270413	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:113270413G>A	uc001pny.3	+	7	1816	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	574							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCAAATACCTGATCTGCAAGA	0.627000														5			3		0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52960200	52960200	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:52960200G>A	uc001vgo.3	-	3	1688	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	THSD1_uc001vgp.3_Intron|THSD1_uc010tgz.2_Silent_p.S2S	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	381	TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AGGCCTCCAAGGACATTCCAG	0.557000														40			12		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70486792	70486792	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:70486792G>A	uc001dep.3	+	13	1441	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	LRRC7_uc009wbg.3_Silent_p.T2T	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	471						centrosome|focal adhesion|nucleolus	protein binding	p.D470N(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGAAGATGACGAAAATGCTGG	0.388000														71			21		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228433355	228433355	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:228433355G>A	uc009xez.1	+	11	3767	c.3723G>A	c.(3721-3723)ggG>ggA	p.G1241G	OBSCN_uc001hsn.3_Silent_p.G1241G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1241	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGAGGCTGGGGGCCAGAGAG	0.512000														107			37		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40315719	40315719	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:40315719G>A	uc002hzb.2	-	12	2715	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	794					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCCGTGAGGGGAGGCACTGT	0.657000														8			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060381	9060381	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9060381A>G	uc002mkp.3	-	2	27269	c.27065T>C	c.(27064-27066)gTt>gCt	p.V9022A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9024	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGTAAGGAACAGTGCTTGG	0.517000														90			13		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756559	94756559	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:94756559G>A	uc001yct.3	-	1	838	c.372C>T	c.(370-372)atC>atT	p.I124I	SERPINA10_uc001ycu.4_Silent_p.I124I	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	124					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GCCCTCTCTTGATCTGGGTTT	0.597000														56			22		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581636	82581636	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:82581636C>T	uc003uhx.2	-	4	8922	c.8633G>A	c.(8632-8634)gGt>gAt	p.G2878D	PCLO_uc003uhv.2_Missense_Mutation_p.G2878D|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2809					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						ATTTGTGACACCAACAGGAGG	0.463000														87			29		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526599	84526599	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:84526599G>A	uc004eeq.3	+	9	3075	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	ZNF711_uc004eep.3_Missense_Mutation_p.G684E|ZNF711_uc004eeo.3_Missense_Mutation_p.G684E|ZNF711_uc011mqy.1_Missense_Mutation_p.G283E	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	684					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGCAAGAGAGGATTCAGACAA	0.363000														37			53		0	0	1	0	0
SP3	6670	broad.mit.edu	37	2	174820388	174820388	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:174820388C>T	uc002uig.3	-	3	1383	c.852G>A	c.(850-852)caG>caA	p.Q284Q	SP3_uc002uie.3_Silent_p.Q216Q|SP3_uc002uif.3_Silent_p.Q231Q|SP3_uc010zel.2_Silent_p.Q281Q	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	284					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CAGTCATTGTCTGAGAACTGC	0.443000														148			31		0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48482738	48482738	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:48482738G>A	uc001rqx.3	-	4	672	c.226C>T	c.(226-228)Cct>Tct	p.P76S	SENP1_uc001rqw.3_Missense_Mutation_p.P76S|SENP1_uc001rqy.3_5'UTR|SENP1_uc001rqz.3_5'UTR|SENP1_uc009zkx.3_Missense_Mutation_p.P76S	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	76	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TCTGAGGAAGGATTATCTAAA	0.378000														9			6		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19413025	19413025	+	RNA	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:19413025A>G	uc010tcj.1	-	0		c.33085T>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AATAACCTGCACATCCATGCA	0.299000														33			4		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68406070	68406070	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:68406070C>T	uc002ewa.3	-	2	437	c.15G>A	c.(13-15)acG>acA	p.T5T	SMPD3_uc010cfe.3_Silent_p.T5T|SMPD3_uc010vlh.2_Silent_p.T5T	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	5					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GAAAGGGGGTCGTGTACAAAA	0.627000														17			4		0	0	1	0	0
C10orf47	254427	broad.mit.edu	37	10	11894099	11894099	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:11894099C>T	uc001ikx.3	+	1	177	c.23C>T	c.(22-24)tCa>tTa	p.S8L	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	8	Ser-rich.									central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						CACCGGAAATCAGACGCATCT	0.622000														19			7		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129739650	129739650	+	Silent	SNP	G	A	A	rs2229652		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:129739650G>A	uc001qfg.3	-	21	3466	c.3345C>T	c.(3343-3345)atC>atT	p.I1115I	NFRKB_uc001qfi.3_Silent_p.I1090I|NFRKB_uc001qfh.3_Silent_p.I1113I|NFRKB_uc010sbw.1_Silent_p.I1100I|NFRKB_uc009zcr.3_Silent_p.I376I	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	1090					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTCCCTGCACGATGCGGATCG	0.592000														88			24		0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24608226	24608226	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:24608226C>T	uc004dbi.3	-	3	633	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	PCYT1B_uc004dbk.4_Missense_Mutation_p.E134K|PCYT1B_uc004dbj.3_Missense_Mutation_p.E116K	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	134	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CTGAGAGCTTCGTATCTCTCG	0.443000														37			4		0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67075647	67075647	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:67075647C>T	uc001okj.3	+	8	1066	c.888C>T	c.(886-888)atC>atT	p.I296I	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.I150I	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	296					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCTGCAGATCCGCCAGGCTC	0.652000														56			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072508	9072508	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9072508G>A	uc002mkp.3	-	2	15142	c.14938C>T	c.(14938-14940)Cct>Tct	p.P4980S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4982	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						GCCCCATGAGGACCTGTTTGG	0.473000														67			40		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171510756	171510756	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:171510756T>G	uc010pmg.2	+	15	4411	c.4145T>G	c.(4144-4146)gTt>gGt	p.V1382G	PRRC2C_uc010pmh.2_Missense_Mutation_p.V359G	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	1382	Arg-rich.						protein C-terminus binding										CAGTCAGAAGTTCCTAAACCA	0.498000														23			15		0	0	1	0	0
FAM167A	83648	broad.mit.edu	37	8	11301671	11301671	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:11301671G>A	uc010lry.1	-	1	870	c.250C>T	c.(250-252)Ccc>Tcc	p.P84S	FAM167A_uc003wtw.2_Missense_Mutation_p.P84S	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	Homo sapiens family with sequence similarity 167, member A (FAM167A), mRNA.	84										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TCTCTCAGGGGGAGCAAGGGC	0.687000														61			14		0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	31144244	31144244	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:31144244G>A	uc021xnd.1	+	2	4549	c.3541G>A	c.(3541-3543)Gat>Aat	p.D1181N	PCDH7_uc011bxx.2_Missense_Mutation_p.D1173N	NM_001173523	NP_001166994	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant d, mRNA.	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.D1126Y(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CATGCCTGTTGATGAACGAGG	0.537000														135			23		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42839288	42839288	+	Silent	SNP	C	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:42839288C>G	uc002otl.4	+	3	1295	c.660C>G	c.(658-660)gcC>gcG	p.A220A	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	220						integral to membrane	calcium ion binding|structural molecule activity	p.A220D(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACGTGAGTGCCAGGGACCCTG	0.652000														25			6		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228539042	228539042	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:228539042T>C	uc009xez.1	+	77	18484	c.18440T>C	c.(18439-18441)cTg>cCg	p.L6147P	OBSCN_uc001hsn.3_Missense_Mutation_p.L6147P|OBSCN_uc001hsr.1_Missense_Mutation_p.L776P|OBSCN_uc009xfa.3_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6147	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACGGGGCCCTGCTGACCACT	0.642000														6			3		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	222841	222841	+	RNA	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrGL000192.1:222841C>T	uc010yij.1	-	17		c.3082G>A				NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCAGGCCCCTCCCACCATTTA	0.463000														29			9		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51367609	51367609	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:51367609C>T	uc011bds.2	+	32	3466	c.3443C>T	c.(3442-3444)tCa>tTa	p.S1148L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1148	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCATGGTGTCAGAAGGGAAA	0.532000														8			4		0	0	1	0	0
KLK12	43849	broad.mit.edu	37	19	51535239	51535239	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:51535239G>A	uc002pvh.1	-	3	467	c.350C>T	c.(349-351)cCc>cTc	p.P117L	KLK12_uc002pvg.1_Missense_Mutation_p.P117L|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvi.1_Missense_Mutation_p.P117L|KLK12_uc002pvj.1_Intron	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	117	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		TACGCGGACGGGCAGGCGCAG	0.677000														36			12		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122831503	122831503	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:122831503C>T	uc003ieg.2	-	5	1672	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E	TRPC3_uc010inr.2_Missense_Mutation_p.G405E|TRPC3_uc003ief.2_Missense_Mutation_p.G460E|TRPC3_uc011cgl.1_Missense_Mutation_p.G197E	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	448					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCCCTAGGTCCTTCCAGCCA	0.458000														100			39		0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233394675	233394675	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:233394675C>T	uc002vsw.3	+	6	650	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.R201W|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	216					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GATAGTCCACCGGCCGGCCAG	0.647000														72			13		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:138414689G>A	uc002tva.1	+	22	4244	c.4244G>A	c.(4243-4245)cGa>cAa	p.R1415Q	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATAACGAACGAACTGTATGG	0.413000														45			9		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25438295	25438295	+	RNA	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:25438295G>A	uc001yzf.1	+	2		c.173G>A			SNRPN_uc001yzh.2_5'Flank|SNORD115-14_uc001yzj.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GAGCCTGGAGGAAGACTTGAA	0.592000									Prader-Willi syndrome					21			6		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30938609	30938609	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:30938609A>G	uc003xio.4	+	8	1854	c.1066A>G	c.(1066-1068)Aaa>Gaa	p.K356E	WRN_uc011lbd.1_Missense_Mutation_p.K59E|WRN_uc011lbe.1_5'Flank	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	356					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCATTTAGCTAAACATGATGG	0.353000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					94			69		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2326779	2326779	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:2326779C>T	uc002cpy.1	-	32	5723	c.5011G>A	c.(5011-5013)Gaa>Aaa	p.E1671K	ABCA3_uc010bsk.1_Missense_Mutation_p.E1613K	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1671					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCGTACTTTTCCTTGGCTTTC	0.602000														53			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590734	179590734	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:179590734G>A	uc021vsy.1	-	66	16808	c.16583C>T	c.(16582-16584)aCc>aTc	p.T5528I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2189I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6455	Ig-like 36.						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)			ATTTTTAAGGGTTTCTACTAT	0.403000														45			8		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214630	161214630	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:161214630T>A	uc011bpb.2	+	0	35	c.35T>A	c.(34-36)aTt>aAt	p.I12N		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	12						collagen		p.L11*(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCTATTTTAATTATTTTGGCT	0.338000														27			7		0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41052951	41052951	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:41052951C>T	uc002icb.1	+	0	137	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	LOC388387_uc002ibz.2_5'Flank|LOC388387_uc002iby.2_5'Flank|LOC388387_uc002ica.2_5'Flank|LOC388387_uc010whe.1_5'Flank|G6PC_uc010whf.1_Nonsense_Mutation_p.Q22*	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	20			Q -> R (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	p.Q20*(2)		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)		ACATTACCTCCAGGTGAATTA	0.502000														74			42		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24525909	24525909	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:24525909C>T	uc001wlj.2	+	11	1101	c.944C>T	c.(943-945)tCc>tTc	p.S315F		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	315										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ACTGCCATTTCCCCTCGAGGT	0.592000														27			17		0	0	1	0	0
TMEM196	256130	broad.mit.edu	37	7	19765341	19765341	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:19765341C>T	uc011jyg.2	-	2	340	c.255G>A	c.(253-255)ctG>ctA	p.L85L	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	91						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						ACTGAAAATTCAGGATGCCCC	0.493000														70			23		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132433955	132433955	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:132433955G>A	uc003epe.2	-	4	1035	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	NPHP3_uc003epf.2_Nonsense_Mutation_p.Q66*	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	311					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCTCAGGCTGGGTTTCATCT	0.323000														124			42		0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99380403	99380403	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:99380403T>A	uc001dsb.3	-	4	1094	c.872A>T	c.(871-873)cAg>cTg	p.Q291L	LPPR5_uc001dsc.3_Missense_Mutation_p.Q291L	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA.	291						integral to membrane	hydrolase activity										CATTGGCATCTGTGCCAGATT	0.358000														136			60		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43860573	43860573	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:43860573G>A	uc010skx.2	-	8	1249	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	417	Peptidase M12B.					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)		TTACATCTAGGATTATCATCA	0.318000														64			24		0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10166414	10166414	+	RNA	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:10166414C>T	uc010dwx.2	+	15		c.2007C>T								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GGAGAAGGGCCCTGTGGTCAT	0.562000														39			17		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024701	203024701	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:203024701C>T	uc009xaj.3	+	20	2346	c.2346C>T	c.(2344-2346)tcC>tcT	p.S782S	PPFIA4_uc010pqf.2_Silent_p.S364S|PPFIA4_uc001gyz.3_Silent_p.S151S|PPFIA4_uc001gza.3_Silent_p.S151S|PPFIA4_uc001gzb.1_5'Flank			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	151					cell communication	cell surface|cytoplasm	protein binding	p.L781M(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CGGCCCTGTCCCTGGCCAGCG	0.642000														42			27		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36875201	36875201	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:36875201C>T	uc003cgj.3	-	20	5989	c.5741G>A	c.(5740-5742)aGg>aAg	p.R1914K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1914					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTACCTTCCCTGTTCAGCAG	0.542000														68			25		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216752	3216752	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:3216752G>A	uc022aqr.1	-	20	3616	c.3226C>T	c.(3226-3228)Cgt>Tgt	p.R1076C	CSMD1_uc011kwj.2_Missense_Mutation_p.R469C|CSMD1_uc003wqe.3_Missense_Mutation_p.R233C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1077	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCTAAACGATATCCCAGG	0.557000														75			30		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107012978	107012978	+	RNA	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:107012978C>T	uc021ser.1	-	218		c.8898G>A								Parts of antibodies, mostly variable regions.																		GGTTTTCAGGCTGTTCATTTG	0.507000														134			52		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501064	195501064	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:195501064G>A	uc021xjp.1	-	3	13212	c.13056C>T	c.(13054-13056)tcC>tcT	p.S4352S	MUC4_uc003fuz.3_Missense_Mutation_p.P32L|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Silent_p.S93S|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Silent_p.S93S|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Silent_p.S116S|MUC4_uc003fvp.3_Silent_p.S65S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1109					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACGGAGAGAGGAGCCAAGGG	0.662000														25			7		0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416195	153416195	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrX:153416195G>A	uc004fjz.4	+	1	213	c.180G>A	c.(178-180)atG>atA	p.M60I		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	60					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTCTGGATGATCTTTGTGG	0.577000														36			35		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088815	9088815	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:9088815T>A	uc002mkp.3	-	0	3204	c.3000A>T	c.(2998-3000)aaA>aaT	p.K1000N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1000	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						GAGAAGTGAATTTAGAGACCA	0.483000														212			38		0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99378639	99378639	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:99378639G>A	uc001vno.3	-	2	163	c.86C>T	c.(85-87)tCc>tTc	p.S29F	SLC15A1_uc001vnp.1_5'UTR	NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	29					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	p.S29F(2)|p.S29S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TCCATAGTAGGAAAATCTTTC	0.443000														37			10		0	0	1	0	0
FAM151B	167555	broad.mit.edu	37	5	79837609	79837609	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:79837609C>T	uc003kgv.2	+	5	932	c.789C>T	c.(787-789)aaC>aaT	p.N263N	FAM151B_uc010jal.2_Non-coding_Transcript	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	Homo sapiens family with sequence similarity 151, member B (FAM151B), mRNA.	263										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		AACCACAAAACCATGAATTTA	0.318000														34			9		0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103347521	103347521	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:103347521G>A	uc002tcb.2	-	2	328	c.260C>T	c.(259-261)tCc>tTc	p.S87F	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.S26F	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	87					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AATGCCATAGGAGGAGCCTGT	0.338000														59			27		0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16338446	16338446	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:16338446C>T	uc002ndv.2	+	7	970	c.797C>T	c.(796-798)tCc>tTc	p.S266F	AP1M1_uc002ndu.2_Missense_Mutation_p.S254F|AP1M1_uc010xpd.1_Missense_Mutation_p.S254F	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	254	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CGCACCATCTCCTTCATCCCA	0.617000														132			62		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17892264	17892264	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:17892264C>T	uc002nhg.3	+	21	2023	c.1744C>T	c.(1744-1746)Cgt>Tgt	p.R582C	FCHO1_uc010ebb.2_Missense_Mutation_p.R582C|FCHO1_uc002nhh.2_Missense_Mutation_p.R582C|FCHO1_uc010xpw.1_Missense_Mutation_p.R532C	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	582										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CTTCCAGTCTCGTTCCCTGAG	0.637000														50			19		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885347	12885347	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:12885347G>A	uc001auk.2	-	3	960	c.764C>T	c.(763-765)tCg>tTg	p.S255L		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	255										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GACCTTTAACGAGGTCTTCAG	0.493000														294			121		0	0	1	0	0
OCM	654231	broad.mit.edu	37	7	5922155	5922155	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:5922155C>T	uc003spe.4	+	1	185	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001097622	NP_001091091	P0CE72	ONCO_HUMAN	Homo sapiens oncomodulin (OCM), mRNA.	31							calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		AAAAATTCTTCCAGACATCAG	0.458000														215			84		0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47541893	47541893	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:47541893G>A	uc003oyw.3	+	5	1091	c.635G>A	c.(634-636)cGa>cAa	p.R212Q		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	212					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAGAAAATTCGAGGAATTGGA	0.408000														110			41		0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110771024	110771024	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:110771024A>G	uc001tqk.4	+	9	1786	c.1223A>G	c.(1222-1224)gAt>gGt	p.D408G	ATP2A2_uc001tql.4_Missense_Mutation_p.D408G|ATP2A2_uc021rdt.1_Missense_Mutation_p.D256G	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	408					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CACCAGTATGATGGTCTGGTA	0.418000														175			80		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841918	5841918	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:5841918T>C	uc010qzp.2	+	0	353	c.353T>C	c.(352-354)aTg>aCg	p.M118T	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGTGCTCATGCTCATGGCC	0.537000														92			18		0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13529218	13529218	+	Missense_Mutation	SNP	C	T	T	rs149562504	byFrequency	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:13529218C>T	uc001rbs.2	-	1	374	c.122G>A	c.(121-123)cGa>cAa	p.R41Q						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		gtcagcccttcgtttcagagg	0.522000														45			9		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15555736	15555736	+	Silent	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:15555736A>G	uc002rcc.1	-	24	2897	c.2871T>C	c.(2869-2871)taT>taC	p.Y957Y	NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	957										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGTTACTAAATATTCTTTTA	0.378000														75			42		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126137312	126137312	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:126137312G>A	uc010hsg.1	+	4	492	c.433G>A	c.(433-435)Gag>Aag	p.E145K	CCDC37_uc003eiu.1_Missense_Mutation_p.E144K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	144										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AAAGAATGTGGAGCCTGAGAA	0.607000														36			18		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363780	22363780	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:22363780G>A	uc002nqs.1	-	2	1057	c.739C>T	c.(739-741)Cat>Tat	p.H247Y		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)				TCTCCAGTATGAATTATCTTA	0.368000														156			31		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054402	102054402	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:102054402A>G	uc001kqx.1	-	8	1932	c.1549T>C	c.(1549-1551)Ttc>Ctc	p.F517L	PKD2L1_uc009xwm.1_Missense_Mutation_p.F470L	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	517					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ATTATCCGGAACTGAGTGAAA	0.512000														100			7		0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190593448	190593448	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:190593448G>A	uc002uqw.2	+	14	3182	c.3094G>A	c.(3094-3096)Ggg>Agg	p.G1032R	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Missense_Mutation_p.G128R	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1032						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AATATGTGAAGGGAATGGAAT	0.413000														91			11		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68241765	68241765	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:68241765G>A	uc001xka.2	-	26	5427	c.5288C>T	c.(5287-5289)cCa>cTa	p.P1763L	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P1763L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1763					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTCTGCTGATGGTGATCTAGG	0.443000														17			3		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53044632	53044632	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:53044632G>A	uc003xqz.2	-	16	2708	c.2552C>T	c.(2551-2553)cCt>cTt	p.P851L	ST18_uc011ldq.1_Missense_Mutation_p.P498L|ST18_uc011ldr.1_Missense_Mutation_p.P816L|ST18_uc011lds.1_Missense_Mutation_p.P756L|ST18_uc003xra.2_Missense_Mutation_p.P851L	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	851						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCATTGAGAGGATTCTCCTT	0.498000														65			31		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611589	61611589	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:61611589C>T	uc002jay.3	+	4	1098	c.1018C>T	c.(1018-1020)Cac>Tac	p.H340Y	KCNH6_uc002jax.1_Missense_Mutation_p.H340Y|KCNH6_uc010wpl.2_Missense_Mutation_p.H217Y|KCNH6_uc010wpm.2_Missense_Mutation_p.H340Y|KCNH6_uc002jaz.1_Missense_Mutation_p.H340Y	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	340					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CATCGCCGTCCACTACTTCAA	0.587000														57			35		0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091687	11091687	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:11091687C>T	uc010shi.2	-	0	120	c.120G>A	c.(118-120)aaG>aaA	p.K40K	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA.	40					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CCGAAGAGATCTTTCTTCCCT	0.393000														54			23		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76681226	76681226	+	RNA	SNP	G	C	C			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:76681226G>C	uc003ufy.2	+	4		c.1203G>C								Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) pseudogene (LOC100132832), non-coding RNA.																		TGTCACACTTGAAGGAGGCAG	0.453000														6			3		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253191	65253191	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr14:65253191G>A	uc001xht.3	-	14	3543	c.3492C>T	c.(3490-3492)ctC>ctT	p.L1164L	SPTB_uc001xhr.3_Silent_p.L1164L|SPTB_uc001xhs.3_Silent_p.L1164L|SPTB_uc001xhu.3_Silent_p.L1164L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1164					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			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)		GGCACTGAGCGAGGGTGTGGC	0.622000														43			10		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24924439	24924439	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:24924439G>A	uc001ywo.3	+	0	3899	c.3425G>A	c.(3424-3426)gGa>gAa	p.G1142E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1142					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)		CACTACTATGGACAAGAAACA	0.453000														140			37		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751770	26751770	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:26751770G>A	uc003cdp.3	+	1	1196	c.607G>A	c.(607-609)Gat>Aat	p.D203N	LRRC3B_uc003cdq.3_Missense_Mutation_p.D203N|LRRC3B_uc021wuj.1_Missense_Mutation_p.D203N	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	203						integral to membrane		p.D203E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AAAAACTACCGATTATGCCAT	0.473000														30			14		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36979536	36979536	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr6:36979536G>A	uc010jwp.1	+	3	604	c.433G>A	c.(433-435)Gat>Aat	p.D145N	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	145	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTTCCCAGAGGATGTGGTCAG	0.582000														78			32		0	0	1	0	0
EVI2A	2123	broad.mit.edu	37	17	29645707	29645707	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:29645707T>A	uc002hgl.3	-	2	731	c.394A>T	c.(394-396)Agc>Tgc	p.S132C	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2A_uc002hgm.3_Missense_Mutation_p.S109C|EVI2A_uc021tul.1_Missense_Mutation_p.S109C	NM_001003927	NP_055025	P22794	EVI2A_HUMAN	Homo sapiens ecotropic viral integration site 2A (EVI2A), transcript variant 1, mRNA.	109						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTTTCAATGCTCTGTACTGTT	0.363000														143			54		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85562048	85562048	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:85562048G>A	uc011ccv.2	+	9	1435	c.937G>A	c.(937-939)Gat>Aat	p.D313N	CDS1_uc010ike.1_Missense_Mutation_p.D117N	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	313					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATACCGAAGTGATGTAAACTC	0.403000														158			65		0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113798367	113798367	+	Silent	SNP	C	T	T	rs137995645	by1000genomes	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr13:113798367C>T	uc001vsx.3	+	5	762	c.705C>T	c.(703-705)atC>atT	p.I235I	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Silent_p.I235I	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	235	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACCAGGATCGTGGGAGGCC	0.622000														65			11		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972487	92972487	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:92972487C>T	uc022axs.1	-	11	2162	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	RUNX1T1_uc003yfc.2_Missense_Mutation_p.E573K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E573K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E563K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E600K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E600K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E573K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E611K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E600K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E600K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E600K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E600K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E580K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E600K|RUNX1T1_uc010man.2_Missense_Mutation_p.E225K|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E563K	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	600					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGGGTTGTCTCTATGGTGGAA	0.567000														11			5		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562818	140562818	+	Silent	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr5:140562818C>T	uc003liv.3	+	0	1839	c.684C>T	c.(682-684)gtC>gtT	p.V228V		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	228	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCTCAGGTCCGTATTGAAG	0.522000														78			32		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52910459	52910459	+	Silent	SNP	G	A	A	rs60062350		TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr12:52910459G>A	uc001san.3	-	6	1564	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	KRT5_uc009zmh.3_Silent_p.I467I	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	467	Coil 2.|Rod.		I -> T (in DM-EBS).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTAAGTGGCGATCTCCACGT	0.587000														139			61		0	0	1	0	0
OPTC	26254	broad.mit.edu	37	1	203465214	203465214	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:203465214G>A	uc001gzu.1	+	1	197	c.81G>A	c.(79-81)agG>agA	p.R27R		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	27						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.R27M(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			GGAAGGAGAGGAAGAGGAGAG	0.552000														41			9		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434439	31434439	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:31434439G>A	uc010cap.1	+	23	2837	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	ITGAD_uc002ebv.1_Missense_Mutation_p.E929K	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	929					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTCCAGGCAGGAAGAATCCAC	0.517000														58			9		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7768994	7768994	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:7768994C>T	uc001ijs.3	+	9	1228	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	356	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCAGAACATTCGAACTTGGAG	0.398000														60			37		0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910774	108910775	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:108910774_108910775CC>TT	uc002tdy.3	+	2	694_695	c.241_242CC>TT	c.(241-243)cct>TTt	p.P81F	SULT1C2_uc010ywp.1_Missense_Mutation_p.L17F|SULT1C2_uc010ywq.2_Missense_Mutation_p.P81F|SULT1C2_uc002tdx.3_Missense_Mutation_p.P81F	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	81					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ACACCGCCATCCTTTCATTGAG	0.530000														111			20		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63491888	63491888	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr18:63491888C>T	uc002lkb.3	+	5	1228	c.802C>T	c.(802-804)Caa>Taa	p.Q268*	CDH7_uc002ljz.3_Nonsense_Mutation_p.Q268*|CDH7_uc002lka.3_Nonsense_Mutation_p.Q268*	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	268	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGGGTCTTATCAATATAACGT	0.368000														83			29		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128445894	128445894	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr7:128445894G>A	uc003vnv.2	+	6	1444	c.1028G>A	c.(1027-1029)aGg>aAg	p.R343K	CCDC136_uc003vnu.2_Missense_Mutation_p.R381K|CCDC136_uc003vnx.2_Missense_Mutation_p.R159K|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	343						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CGGCTGCAGAGGGAGCTCAAG	0.567000														32			18		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960822	143960822	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:143960822C>T	uc010mey.3	-	1	321	c.314G>A	c.(313-315)aGg>aAg	p.R105K	CYP11B1_uc003yxi.3_Intron|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCACCATCCCCTGCCCTGGCA	0.607000									Familial Hyperaldosteronism type I					37			9		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49168403	49168403	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr11:49168403C>T	uc001ngy.3	-	18	2419	c.2158G>A	c.(2158-2160)Gac>Aac	p.D720N	FOLH1_uc001ngx.3_Nonsense_Mutation_p.W119*|FOLH1_uc009yly.3_Missense_Mutation_p.D705N|FOLH1_uc009ylz.3_Missense_Mutation_p.D674N|FOLH1_uc001ngz.3_Missense_Mutation_p.D689N|FOLH1_uc009yma.3_Missense_Mutation_p.D412N	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	720					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTGGAAGGGTCCACTTTGCTT	0.478000														96			31		0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126181039	126181039	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:126181039G>A	uc003eiv.3	-	5	1520	c.1466C>T	c.(1465-1467)cCg>cTg	p.P489L	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Missense_Mutation_p.P489L	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	489					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		AAGAGAACTCGGAGCTTCTAG	0.448000														110			30		0	0	1	0	0
IL29	282618	broad.mit.edu	37	19	39788664	39788664	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:39788664G>A	uc002okv.3	+	2	407	c.310G>A	c.(310-312)Gcc>Acc	p.A104T		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.	104					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding			endometrium(2)|lung(2)	4	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTCCTGGAGGCCGCTGCTGG	0.662000														56			10		0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100537693	100537693	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr15:100537693A>G	uc002bvv.1	-	18	2772	c.2693T>C	c.(2692-2694)gTc>gCc	p.V898A		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	898	TSP type-1 3.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCGCGTAGCGACGTGTGTGCC	0.687000														36			4		0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27332407	27332407	+	Silent	SNP	A	G	G			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:27332407A>G	uc009xku.1	-	19	2281	c.2109T>C	c.(2107-2109)tcT>tcC	p.S703S	ANKRD26_uc001itg.2_Silent_p.S389S|ANKRD26_uc001ith.2_Silent_p.S702S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	702						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCTTGTAACTAGAGTGGGGTA	0.363000														19			14		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155526125	155526125	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr4:155526125G>A	uc003ioj.3	-	8	1364	c.1223C>T	c.(1222-1224)aCc>aTc	p.T408I	FGG_uc003iog.3_Missense_Mutation_p.T408I	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	408	Fibrinogen C-terminal.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTTCATAGTGGTTTTCTTCAT	0.463000														87			49		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12626297	12626297	+	Silent	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:12626297G>A	uc002gno.2	+	4	686	c.387G>A	c.(385-387)gtG>gtA	p.V129V	MYOCD_uc002gnn.2_Silent_p.V129V|MYOCD_uc002gnp.1_Silent_p.V33V	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	129					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.P128H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCTTCCTGTGGATTCTGCTG	0.478000														133			50		0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	G	G	rs12107841	by1000genomes	TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587000														50			4		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4967264	4967264	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chrY:4967264C>T	uc004fqo.3	+	1	2379	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C	PCDH11Y_uc010nwg.1_Missense_Mutation_p.R538C|PCDH11Y_uc004fql.1_Missense_Mutation_p.R538C|PCDH11Y_uc004fqm.1_Missense_Mutation_p.R538C|PCDH11Y_uc004fqn.1_Missense_Mutation_p.R549C|PCDH11Y_uc004fqp.1_Missense_Mutation_p.R320C	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	549	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R538C(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGCCTGGATCGTCGTACAGG	0.443000														20			3		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371251	48371251	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr10:48371251G>A	uc001jex.3	+	1	881	c.719G>A	c.(718-720)tGg>tAg	p.W240*	ZNF488_uc021ppx.1_Nonsense_Mutation_p.W240*	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCTACACTGTGGCTGGAGCAT	0.582000														44			27		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661100	162661100	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr2:162661100C>T	uc002ubx.4	+	2	456	c.272C>T	c.(271-273)tCt>tTt	p.S91F	SLC4A10_uc010fpa.1_Missense_Mutation_p.S103F|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.S102F|SLC4A10_uc002uby.4_Missense_Mutation_p.S91F	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	91					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGTCACCTTCTTTTGGTAAG	0.348000														17			7		0	0	1	0	0
DDX11L9	100288486	broad.mit.edu	37	1	13417	13418	+	Frame_Shift_Ins	INS	-	GAGA	GAGA			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr1:13417_13418insGAGA	uc010nxq.1	+	2	496_497	c.180_181insGAGA	c.(178-183)cccgagfs	p.P60fs	DDX11L9_uc001aaa.3_Non-coding_Transcript|DDX11L9_uc010nxr.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 9;																		TCCACCACCCCGAGATCACATT	0.559													---	36	---	---	8	---					
CSMD3	114788	broad.mit.edu	37	8	113569025	113569025	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr8:113569025delT	uc003ynu.3	-	24	4360	c.4201delA	c.(4201-4203)aggfs	p.R1401fs	CSMD3_uc003yns.3_Frame_Shift_Del_p.R673fs|CSMD3_uc003ynt.3_Frame_Shift_Del_p.R1361fs|CSMD3_uc011lhx.2_Frame_Shift_Del_p.R1297fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1401	Sushi 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCCATGCCCTTCTCTCCCCT	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	82	---	---	57	---					
LOC100132247	100132247	broad.mit.edu	37	16	22545540	22545558	+	Frame_Shift_Del	DEL	CGAGCGTCTGCGGGGGCCG	-	-			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG	uc010bxg.3	+	8	1418_1436	c.1236_1254delCGAGCGTCTGCGGGGGCCG	c.(1234-1254)gccgagcgtctgcgggggccgfs	p.A412fs	LOC100132247_uc010vbv.2_Frame_Shift_Del_p.A412fs|LOC100132247_uc021tew.1_Frame_Shift_Del_p.A412fs|LOC100132247_uc010bxi.3_Frame_Shift_Del_p.A393fs|LOC100132247_uc010bxk.3_Frame_Shift_Del_p.A229fs	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		AGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCT	0.562													---	9	---	---	5	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													---	65	---	---	9	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EB-A3XB-01A-11D-A23B-08	TCGA-EB-A3XB-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1d1d007-672a-40da-9430-95814cf2b48b	9f4ffc2f-d006-4d86-b3b1-b25020481893	g.chr19:47935681_47935683delTCC	uc010ele.3	-	7	2146_2148	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_uc002pgx.3_In_Frame_Del_p.E710del|SLC8A2_uc010xyq.2_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.2_In_Frame_Del_p.E173del			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													---	112	---	---	14	---					
