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
BUB1	699	broad.mit.edu	37	2	111398697	111398697	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:111398697G>A	uc002tgc.3	-	22	2981	c.2869C>T	c.(2869-2871)Cca>Tca	p.P957S	BUB1_uc010yxh.2_Missense_Mutation_p.P937S|BUB1_uc010fkb.3_Missense_Mutation_p.P900S	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	957	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GTTCCTTTTGGAAAAAGTTTC	0.368000														16			16		0	0	0.004007	0	0
FAM5B	57795	broad.mit.edu	37	1	177226513	177226513	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:177226513C>T	uc001glf.3	+	3	974	c.662C>T	c.(661-663)gCc>gTc	p.A221V	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Missense_Mutation_p.A116V	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	221						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCCACGGGGGCCATCAAGGTA	0.617000														13			3		0	0	0.004672	0	0
LRRN2	10446	broad.mit.edu	37	1	204588452	204588452	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:204588452C>T	uc021phy.1	-	0	669	c.669G>A	c.(667-669)atG>atA	p.M223I	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.M223I|LRRN2_uc001hbf.1_Missense_Mutation_p.M223I|LRRN2_uc009xbf.1_Missense_Mutation_p.M223I|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	223					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCCGCAGGTTCATGCCTGCTA	0.607000														50			36		0	0	0.004289	0	0
SORT1	6272	broad.mit.edu	37	1	109897060	109897060	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:109897060G>A	uc001dxm.2	-	4	686	c.637C>T	c.(637-639)Cct>Tct	p.P213S	SORT1_uc010ovi.2_Missense_Mutation_p.P77S|SORT1_uc009wfb.2_Missense_Mutation_p.P77S	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	213					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GGATGAAAAGGGAGATCTGTT	0.428000														102			73		0	0	0.014410	0	0
USP54	159195	broad.mit.edu	37	10	75258464	75258465	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:75258464_75258465CC>TT	uc001juo.3	-	21	4994_4995	c.4977_4978GG>AA	c.(4975-4980)gagggg>gaAAgg	p.G1660R	PPP3CB_uc001juf.3_5'Flank|PPP3CB_uc001jue.3_5'Flank|PPP3CB_uc001jug.3_5'Flank|PPP3CB_uc001juh.2_5'Flank|PPP3CB_uc001jui.2_5'Flank|USP54_uc010qkk.2_Missense_Mutation_p.G795R|USP54_uc001juk.3_Missense_Mutation_p.G748R|USP54_uc001jul.3_Missense_Mutation_p.G701R|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	1660					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AACAGAAACCCCTCTCCCACTG	0.520000														41			23		0	0	0.004672	0	0
ZNF716	441234	broad.mit.edu	37	7	57522288	57522288	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:57522288C>T	uc011kdi.1	+	1	274	c.162C>T	c.(160-162)tcC>tcT	p.S54S		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ACCTGGTCTCCCTGGGTGAGG	0.368000														6			11		0	0	0.008291	0	0
COL11A1	1301	broad.mit.edu	37	1	103428225	103428225	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:103428225C>T	uc001dum.3	-	38	3362	c.3044G>A	c.(3043-3045)gGa>gAa	p.G1015E	COL11A1_uc001duk.3_Missense_Mutation_p.G199E|COL11A1_uc001dul.3_Missense_Mutation_p.G1003E|COL11A1_uc001dun.3_Missense_Mutation_p.G964E|COL11A1_uc009weh.3_Missense_Mutation_p.G887E	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1003	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTCTTTTCCTGCAGCACC	0.473000														13			13		0	0	0.004007	0	0
MSN	4478	broad.mit.edu	37	X	64955230	64955230	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:64955230C>T	uc004dwf.3	+	7	1095	c.897C>T	c.(895-897)acC>acT	p.T299T		NM_002444	NP_002435	P26038	MOES_HUMAN	Homo sapiens moesin (MSN), mRNA.	299					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGCCTGATACCATTGAGGTGC	0.587000			T	ALK	ALCL									9			3		0	0	0.004672	0	0
DEF6	50619	broad.mit.edu	37	6	35285757	35285757	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:35285757G>A	uc003okk.3	+	5	936	c.897G>A	c.(895-897)caG>caA	p.Q299Q	DEF6_uc010jvs.3_Silent_p.Q299Q|DEF6_uc010jvt.3_Silent_p.Q44Q	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	299	PH.					cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						ACACGCGCCAGCGCCAGGAGT	0.597000														25			7		0	0	0.003080	0	0
X97876	0	broad.mit.edu	37	9	66500921	66500921	+	RNA	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:66500921G>A	uc004aed.1	+	2		c.1014G>A								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		CACCTATGCTGGCAGCAAGAG	0.607000														11			4		0	0	0.001984	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496610	20496610	+	RNA	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:20496610G>A	uc001ytf.1	+	5		c.663G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TCTACTAGTCGAAAGTGGCCT	0.438000														75			9		0	0	0.006214	0	0
RCBTB1	55213	broad.mit.edu	37	13	50140769	50140769	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr13:50140769G>A	uc001vde.1	-	3	523	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	88					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GTGCTGAGAAGAACATGTGGT	0.433000														46			30		0	0	0.009535	0	0
TCR-alpha	0	broad.mit.edu	37	14	22573656	22573656	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:22573656C>T	uc001wdb.2	+	0	74	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron					SubName: Full=cDNA FLJ59026;																		ATTACTAATCCTCTGGTTTCA	0.458000														14			12		0	0	0.003163	0	0
WASH1	100287171	broad.mit.edu	37	16	66940	66940	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:66940G>A	uc002cfg.1	-	4	1355	c.696C>T	c.(694-696)agC>agT	p.S232S		NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.	219					Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	WASH complex|early endosome membrane|recycling endosome membrane	actin binding|alpha-tubulin binding	p.S232S(1)				all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCTCTCTCTTGCTGATGGACA	0.597000														34			5		0	0	0.003080	0	0
LZTR1	8216	broad.mit.edu	37	22	21346528	21346528	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:21346528G>A	uc002zto.3	+	9	1122	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	LZTR1_uc002ztn.3_Missense_Mutation_p.R299Q|LZTR1_uc011ahy.2_Missense_Mutation_p.R321Q|LZTR1_uc010gsr.1_Missense_Mutation_p.R211Q	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	340					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTGCCCGAGCGAGCCTGTGCT	0.612000														39			33		0	0	0.003755	0	0
AADACL3	126767	broad.mit.edu	37	1	12779546	12779546	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:12779546C>T	uc009vnn.1	+	1	300	c.67C>T	c.(67-69)Ccg>Tcg	p.P23S	AADACL3_uc001aug.1_Intron	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	23							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGATCTGCCTCCGCTAAAGTA	0.483000														66			46		0	0	0.010771	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431495	140431495	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:140431495C>T	uc003lik.1	+	0	517	c.440C>T	c.(439-441)cCt>cTt	p.P147L		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	147	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAGCACCCCTTTGGGTTCA	0.532000														20			12		0	0	0.003163	0	0
C17orf53	78995	broad.mit.edu	37	17	42225491	42225491	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:42225491C>T	uc002ifi.2	+	2	557	c.320C>T	c.(319-321)tCc>tTc	p.S107F	C17orf53_uc010czq.2_Missense_Mutation_p.S107F|C17orf53_uc002ifj.2_Missense_Mutation_p.S107F|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	107								p.S107S(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTCTCTACTTCCAGCAGCTGG	0.567000														7			90		0	0	0.014410	0	0
TCEAL4	79921	broad.mit.edu	37	X	102842186	102842186	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:102842186C>T	uc022cbt.1	+	0	583	c.583C>T	c.(583-585)Cca>Tca	p.P195S	TCEAL4_uc004ekl.3_Missense_Mutation_p.P195S|TCEAL4_uc004ekm.3_Missense_Mutation_p.P195S|TCEAL4_uc004ekn.3_Missense_Mutation_p.P195S	NM_024863	NP_079139	Q96EI5	TCAL4_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 4 (TCEAL4), transcript variant 1, mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						CCCTAGAGGTCCAAGGGAATT	0.493000														75			61		0	0	0.014410	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404506	34404506	+	RNA	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:34404506C>T	uc002edv.1	-	0		c.257G>A								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		CGTTTATGTCCTTCTGGATCC	0.567000														32			18		0	0	0.008871	0	0
TXLNA	200081	broad.mit.edu	37	1	32653642	32653642	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:32653642G>A	uc001bui.3	+	4	750	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	TXLNA_uc001buj.3_Missense_Mutation_p.G229S	NM_175852	NP_787048	P40222	TXLNA_HUMAN	Homo sapiens taxilin alpha (TXLNA), mRNA.	229					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCACCTGCGCGGTGAGCACAG	0.622000														10			6		0	0	0.001984	0	0
PWP1	11137	broad.mit.edu	37	12	108102893	108102893	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:108102893G>A	uc001tmo.1	+	12	1261	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N		NM_007062	NP_008993	Q13610	PWP1_HUMAN	Homo sapiens PWP1 homolog (S. cerevisiae) (PWP1), mRNA.	392					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TTTAGGTCTTGATCTTAGCAG	0.388000														14			12		0	0	0.010729	0	0
SRGAP3	9901	broad.mit.edu	37	3	9032423	9032423	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:9032423G>A	uc003brf.1	-	20	3335	c.2659C>T	c.(2659-2661)Ccc>Tcc	p.P887S	SRGAP3_uc003brg.1_Missense_Mutation_p.P863S	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	887					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCAGCCCGGGGTGGTGTGTCT	0.697000			T	RAF1	pilocytic astrocytoma									25			11		0	0	0.010729	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802668	185802668	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:185802668A>G	uc002uph.3	+	3	3139	c.2545A>G	c.(2545-2547)Ata>Gta	p.I849V		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	849						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGATAGGTTAATAAGTGAAGA	0.348000														11			7		0	0	0.004482	0	0
COL4A2	1284	broad.mit.edu	37	13	111156271	111156271	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr13:111156271C>T	uc001vqx.3	+	43	4505	c.4216C>T	c.(4216-4218)Ccc>Tcc	p.P1406S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1406	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GACAGTGGGTCCCCAGGGGAG	0.711000														44			34		0	0	0.012213	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886515	228886515	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:228886515C>T	uc002vpq.2	-	5	656	c.609G>A	c.(607-609)acG>acA	p.T203T	SPHKAP_uc002vpp.2_Silent_p.T203T|SPHKAP_uc010zlx.1_Silent_p.T203T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	203						cytoplasm	protein binding			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)		AGGAACAGTTCGTGTCATCCT	0.463000														11			14		0	0	0.003163	0	0
REV1	51455	broad.mit.edu	37	2	100040690	100040690	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:100040690G>A	uc002tad.3	-	9	1812	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	REV1_uc002tac.3_Missense_Mutation_p.P533S	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	534	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAAGATTAGGACATAGTTGT	0.373000								Direct reversal of damage						5			7		0	0	0.001984	0	0
GOT1	2805	broad.mit.edu	37	10	101165984	101165984	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:101165984G>A	uc001kpr.3	-	3	655	c.447C>T	c.(445-447)tcC>tcT	p.S149S		NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	149					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AACCAGCAGCGGAAAACACAG	0.463000														31			29		0	0	0.013726	0	0
KCND3	3752	broad.mit.edu	37	1	112318829	112318829	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:112318829G>A	uc001ebu.1	-	7	2318	c.1838C>T	c.(1837-1839)gCc>gTc	p.A613V	KCND3_uc001ebv.1_Missense_Mutation_p.A594V	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	613						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GCTGATGATGGCTGTGGTGAT	0.557000														15			17		0	0	0.008871	0	0
NEBL	10529	broad.mit.edu	37	10	21097441	21097441	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:21097441C>T	uc001iqi.3	-	25	3156	c.2759G>A	c.(2758-2760)gGa>gAa	p.G920E	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.	920	Linker.				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						TTTGATACCTCCTTCATCAGA	0.393000														8			7		0	0	0.006214	0	0
BCL11A	53335	broad.mit.edu	37	2	60689199	60689199	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:60689199C>T	uc002sae.1	-	3	1076	c.848G>A	c.(847-849)gGg>gAg	p.G283E	BCL11A_uc002sab.3_Missense_Mutation_p.G283E|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.G249E|BCL11A_uc002sad.1_Missense_Mutation_p.G131E|BCL11A_uc002saf.1_Missense_Mutation_p.G249E	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	283	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.L282L(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCTTCCGCCCCCAGGCGCTC	0.627000			T	IGH@	B-CLL									334			242		0	0	0.014410	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049314	36049314	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:36049314C>T	uc003jjz.2	-	3	652	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	UGT3A2_uc011cos.2_Missense_Mutation_p.E140K|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	174						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCCAAATTCCAAAGAGCCG	0.448000														8			8		0	0	0.003080	0	0
FRMD3	257019	broad.mit.edu	37	9	85958140	85958140	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:85958140G>A	uc004ams.2	-	4	639	c.437C>T	c.(436-438)tCt>tTt	p.S146F	FRMD3_uc004amr.1_Missense_Mutation_p.S146F|FRMD3_uc022bja.1_Missense_Mutation_p.S102F	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	146	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GGCAGCATCAGAAAAGGAGCA	0.478000														22			14		0	0	0.004007	0	0
DEFB125	245938	broad.mit.edu	37	20	77012	77012	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr20:77012C>T	uc002wcw.3	+	1	425	c.425C>T	c.(424-426)tCc>tTc	p.S142F		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	142					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ACTGCTACTTCCGAGACTATG	0.438000														39			27		0	0	0.009535	0	0
THOC2	57187	broad.mit.edu	37	X	122747910	122747910	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:122747910C>T	uc004etu.3	-	33	4474	c.4442G>A	c.(4441-4443)cGg>cAg	p.R1481Q	THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Missense_Mutation_p.R302Q	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1481	Lys-rich.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AACCCTTTTCCGCTCTTTCCT	0.348000														15			4		0	0	0.000602	0	0
FAM123B	139285	broad.mit.edu	37	X	63410535	63410535	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:63410535G>A	uc022byb.1	-	0	2632	c.2632C>T	c.(2632-2634)Ctg>Ttg	p.L878L	FAM123B_uc004dvo.3_Silent_p.L878L	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	878					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CGAGGGTGCAGGCCAGGCAGT	0.567000														31			16		0	0	0.003163	0	0
IGF2R	3482	broad.mit.edu	37	6	160445692	160445692	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:160445692C>T	uc003qta.3	+	4	750	c.602C>T	c.(601-603)tCc>tTc	p.S201F		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	201					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTGGATGACTCCGATCCGGAC	0.478000														5			34		0	0	0.003271	0	0
CCDC138	165055	broad.mit.edu	37	2	109489947	109489947	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:109489947A>T	uc002ten.1	+	13	1794	c.1734A>T	c.(1732-1734)ttA>ttT	p.L578F	CCDC138_uc002teo.1_Intron|CCDC138_uc002tep.1_Missense_Mutation_p.L262F|CCDC138_uc010fjm.1_Intron	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	578										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GCAACTCTTTATTTTTTCGTA	0.368000														9			13		0	0	0.013537	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321264	79321264	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:79321264G>A	uc010mpk.3	-	7	6050	c.5926C>T	c.(5926-5928)Cac>Tac	p.H1976Y	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.H1798Y	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1976					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCTCTGCGTGAGTAAAGGCT	0.453000														25			9		0	0	0.008291	0	0
FCN1	2219	broad.mit.edu	37	9	137801662	137801662	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:137801662C>T	uc004cfi.3	-	8	1052	c.963G>A	c.(961-963)atG>atA	p.M321I		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	321	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCCGCACCTTCATCTCTGACA	0.577000														51			24		0	0	0.004656	0	0
KALRN	8997	broad.mit.edu	37	3	123987794	123987794	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:123987794G>A	uc003ehg.3	+	4	782	c.655G>A	c.(655-657)Gat>Aat	p.D219N	KALRN_uc010hrv.1_Missense_Mutation_p.D219N|KALRN_uc003ehf.1_Missense_Mutation_p.D219N|KALRN_uc011bjy.1_Missense_Mutation_p.D219N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	219					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						GTTTCCTGTGGATGTGGAGGG	0.627000														14			12		0	0	0.001855	0	0
F11	2160	broad.mit.edu	37	4	187197489	187197489	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:187197489C>T	uc003iza.1	+	6	1033	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	234	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CACTCATCATCCCGGTTGCTT	0.413000														11			9		0	0	0.004482	0	0
FMO1	2326	broad.mit.edu	37	1	171227356	171227356	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:171227356A>C	uc009wvz.3	+	1	266	c.130A>C	c.(130-132)Acc>Ccc	p.T44P	FMO1_uc010pme.2_Missense_Mutation_p.T44P|FMO1_uc001ghl.3_Missense_Mutation_p.T44P|FMO1_uc001ghm.3_Missense_Mutation_p.T44P	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	44					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.T44N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGGAGATTCACCGTAAGTGG	0.527000														63			39		0	0	0.010771	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209946292	209946292	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:209946292G>A	uc001hho.3	+	9	1123	c.703_splice	c.e9-1	p.G235_splice	TRAF3IP3_uc001hhm.2_Splice_Site_p.G235_splice|TRAF3IP3_uc001hhn.3_Splice_Site_p.G215_splice|TRAF3IP3_uc009xcr.3_Splice_Site_p.G235_splice	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	235						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		ATTTGCTCCAGGGACAGCTTA	0.438000														10			15		0	0	0.008871	0	0
OR2W1	26692	broad.mit.edu	37	6	29012041	29012041	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:29012041C>T	uc003nlw.2	-	0	912	c.912G>A	c.(910-912)ctG>ctA	p.L304L	LOC100129636_uc021ytq.1_5'UTR	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GAAATCTCATCAGTTTCTTCA	0.363000														8			3		0	0	0.009096	0	0
MTMR7	9108	broad.mit.edu	37	8	17161938	17161938	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:17161938C>T	uc003wxm.3	-	11	1682	c.1443G>A	c.(1441-1443)caG>caA	p.Q481Q	MTMR7_uc003wxn.3_Silent_p.Q260Q|MTMR7_uc011kya.2_Silent_p.Q115Q|MTMR7_uc011kyb.2_Silent_p.Q72Q	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	481	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTCCCTGAGTCTGGCTGTGAT	0.428000														27			7		0	0	0.008291	0	0
UNC5CL	222643	broad.mit.edu	37	6	40999785	40999785	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:40999785C>T	uc003opi.3	-	4	1140	c.1041G>A	c.(1039-1041)cgG>cgA	p.R347R		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	347	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGCTTTTCTCCGGAAGCAGA	0.577000														57			21		0	0	0.014323	0	0
EZH2	2146	broad.mit.edu	37	7	148508728	148508728	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:148508728A>T	uc003wfd.2	-	15	2114	c.1921T>A	c.(1921-1923)Tac>Aac	p.Y641N	EZH2_uc022aov.1_Missense_Mutation_p.Y560N|EZH2_uc011kug.2_Missense_Mutation_p.Y590N|EZH2_uc003wfb.2_Missense_Mutation_p.Y646N|EZH2_uc003wfc.2_Missense_Mutation_p.Y602N|EZH2_uc011kuh.2_Missense_Mutation_p.Y632N	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	641	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.Y646N(51)|p.Y646H(19)|p.Y602N(14)|p.Y602H(6)|p.N640K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTCCACAGTATTCTGAGATG	0.383000			Mis		DLBCL									12			9		0	0	0.006214	0	0
STAB2	55576	broad.mit.edu	37	12	104063322	104063322	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:104063322C>T	uc001tjw.3	+	20	2362	c.2176C>T	c.(2176-2178)Cca>Tca	p.P726S		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	726					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTTCAGATTCCAAAGTGCTG	0.438000														52			44		0	0	0.010771	0	0
MTM1	4534	broad.mit.edu	37	X	149831957	149831957	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:149831957G>A	uc004fef.4	+	13	1595	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.E470K|MTM1_uc011mxz.2_Missense_Mutation_p.E392K|MTM1_uc010nte.3_Missense_Mutation_p.E375K	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	507	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTAATAAAGAAAAATTCAA	0.363000														17			8		0	0	0.004482	0	0
VARS	7407	broad.mit.edu	37	6	31750940	31750940	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:31750940G>A	uc003nxe.3	-	13	2118	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	VARS_uc021yuy.1_5'Flank|VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	565					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGAATGGGTGGATCACGTTCT	0.552000														222			86		0	0	0.014410	0	0
RNF123	63891	broad.mit.edu	37	3	49753064	49753064	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:49753064C>T	uc003cxh.3	+	31	3153	c.3067C>T	c.(3067-3069)Cct>Tct	p.P1023S	RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	1023						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)		ACAGCAGGGTCCTGATGTGGC	0.612000														34			20		0	0	0.008871	0	0
X97876	0	broad.mit.edu	37	9	66500936	66500936	+	RNA	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:66500936G>A	uc004aed.1	+	2		c.1029G>A								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		CAAGAGCGCCGCGGAGCGCCT	0.607000														10			4		0	0	0.001984	0	0
COL14A1	7373	broad.mit.edu	37	8	121381693	121381693	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:121381693C>T	uc003yox.3	+	46	5545	c.5280C>T	c.(5278-5280)gaC>gaT	p.D1760D	COL14A1_uc003yoz.3_Silent_p.D725D	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1760	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATATTGTGACCCCTCATCAT	0.552000														41			14		0	0	0.001855	0	0
RNF148	378925	broad.mit.edu	37	7	122342642	122342642	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:122342642C>T	uc003vkk.1	-	0	380	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	55						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TCTCCTAATTCCGATGTGATC	0.448000														10			5		0	0	0.001168	0	0
OR13C9	286362	broad.mit.edu	37	9	107380132	107380132	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:107380132C>T	uc011lvr.2	-	0	354	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GGTCAAAGGCCATCATGCCCA	0.502000														5			12		0	0	0.002450	0	0
IQSEC3	440073	broad.mit.edu	37	12	247568	247568	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:247568C>T	uc001qhw.2	+	3	1039	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	IQSEC3_uc001qhu.1_Silent_p.L44L|LOC574538_uc001qhv.1_Non-coding_Transcript	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	347					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGAGAGCCGCCTGCCACGGCG	0.667000														9			13		0	0	0.001855	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378150	31378150	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:31378150C>T	uc003tch.3	-	1	1086	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	NEUROD6_uc022abi.1_Missense_Mutation_p.E245K	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	245					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAGTACTTTCATAGAAGGAT	0.473000														32			25		0	0	0.005443	0	0
GPR111	222611	broad.mit.edu	37	6	47650081	47650081	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:47650081C>T	uc010jzj.1	+	5	1787	c.1786C>T	c.(1786-1788)Ctc>Ttc	p.L596F	GPR111_uc003oyy.3_Missense_Mutation_p.L528F	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	596					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GATCTGCTGGCTCAACTGGGA	0.527000														9			13		0	0	0.001855	0	0
OGN	4969	broad.mit.edu	37	9	95165623	95165623	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:95165623T>C	uc011ltx.2	-	1	221	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|OGN_uc004asa.3_Missense_Mutation_p.T23A|OGN_uc004asb.3_Missense_Mutation_p.T23A	NM_033014	NP_148935	P20774	MIME_HUMAN	Homo sapiens osteoglycin (OGN), transcript variant 1, mRNA.	23						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TCCTGCTGGGTTGGTGGTGCT	0.383000														19			4		0	0	0.009096	0	0
ARPP21	10777	broad.mit.edu	37	3	35723313	35723313	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:35723313C>T	uc011axy.2	+	1	282	c.70C>T	c.(70-72)Cca>Tca	p.P24S	ARPP21_uc003cga.3_Missense_Mutation_p.P24S|ARPP21_uc003cgb.3_Missense_Mutation_p.P24S|ARPP21_uc003cfz.3_Non-coding_Transcript|ARPP21_uc003cgc.3_Missense_Mutation_p.P24S|ARPP21_uc003cgd.3_Missense_Mutation_p.P24S|ARPP21_uc011axx.2_Missense_Mutation_p.P24S|ARPP21_uc003cge.3_Missense_Mutation_p.P24S	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	24						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GACGGCCACTCCAGAGAACGG	0.468000														4			4		0	0	0.009096	0	0
TACR3	6870	broad.mit.edu	37	4	104511123	104511123	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:104511123G>A	uc003hxe.1	-	4	1255	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	372						integral to plasma membrane	tachykinin receptor activity	p.R372H(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGACACCAGCGAAATGCTCTC	0.448000														5			8		0	0	0.003080	0	0
TAF1L	138474	broad.mit.edu	37	9	32631964	32631964	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:32631964C>T	uc003zrg.1	-	0	3704	c.3614G>A	c.(3613-3615)cGa>cAa	p.R1205Q	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1205					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCTGGTTTTCGGACTGTCTC	0.423000														34			17		0	0	0.010504	0	0
TLR7	51284	broad.mit.edu	37	X	12906165	12906165	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:12906165C>T	uc004cvc.3	+	2	2677	c.2538C>T	c.(2536-2538)tcC>tcT	p.S846S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	846					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TCTCACTTTCCATATCTGTAT	0.448000														40			23		0	0	0.004656	0	0
OR1S1	219959	broad.mit.edu	37	11	57982301	57982301	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:57982301G>A	uc010rkc.2	+	0	85	c.85G>A	c.(85-87)Gga>Aga	p.G29R		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CATTCTCCTGGGATTTTTCAA	0.418000														28			14		0	0	0.002450	0	0
CLEC18A	348174	broad.mit.edu	37	16	69988295	69988295	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:69988295C>T	uc010vlo.2	+	3	395	c.275C>T	c.(274-276)cCa>cTa	p.P92L	CLEC18A_uc002exy.3_Missense_Mutation_p.P92L|CLEC18A_uc002exz.3_Missense_Mutation_p.P92L|CLEC18A_uc002eya.3_Missense_Mutation_p.P92L|CLEC18A_uc010vlp.2_Missense_Mutation_p.P92L	NM_001136214	NP_872425	A5D8T8	CL18A_HUMAN	Homo sapiens C-type lectin domain family 18, member A (CLEC18A), transcript variant 2, mRNA.	92	SCP.					extracellular region	sugar binding	p.T91I(2)		NS(1)|endometrium(2)|lung(1)|skin(1)	5						TGTGGAACCCCAACCCCGAGC	0.647000														50			7		0	0	0.002450	0	0
FREM1	158326	broad.mit.edu	37	9	14756441	14756441	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:14756441T>G	uc003zlm.3	-	29	6154	c.5338A>C	c.(5338-5340)Aac>Cac	p.N1780H	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.N316H	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1780	Calx-beta.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.K1779N(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GACACTTGGTTGACCTTAGGA	0.353000														2			3		0	0	0.004672	0	0
TMEM26	219623	broad.mit.edu	37	10	63170314	63170314	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:63170314C>T	uc001jlo.2	-	5	1242	c.873G>A	c.(871-873)gcG>gcA	p.A291A	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	291						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GGAAGTTCTTCGCGGCAAAGA	0.507000														5			7		0	0	0.003080	0	0
SLC37A3	84255	broad.mit.edu	37	7	140069425	140069425	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:140069425T>C	uc003vvo.3	-	3	422	c.256A>G	c.(256-258)Aca>Gca	p.T86A	SLC37A3_uc003vvp.3_Missense_Mutation_p.T86A|SLC37A3_uc010lnh.3_Missense_Mutation_p.T86A|SLC37A3_uc011kqz.2_Non-coding_Transcript|SLC37A3_uc011kra.1_Missense_Mutation_p.T86A|SLC37A3_uc011krb.1_Missense_Mutation_p.T86A|5S_rRNA_uc022amt.1_5'Flank	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (SLC37A3), transcript variant 1, mRNA.	86					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GTATCCAGTGTGCCGAGGAAA	0.443000														21			24		0	0	0.009535	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795479	142795479	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:142795479G>A	uc004fbz.3	-	1	953	c.199C>T	c.(199-201)Caa>Taa	p.Q67*		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	67										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCAGTTGATTTGAATTT	0.438000														77			61		0	0	0.014410	0	0
DCC	1630	broad.mit.edu	37	18	51025778	51025778	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:51025778C>T	uc002lfe.2	+	26	4625	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	DCC_uc010dpf.2_Nonsense_Mutation_p.R970*	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1337					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTTGTGTTCGACCAACTCA	0.532000														35			13		0	0	0.001855	0	0
SERPINI1	5274	broad.mit.edu	37	3	167510406	167510406	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:167510406G>A	uc003ffa.4	+	3	708	c.510G>A	c.(508-510)agG>agA	p.R170R	SERPINI1_uc003ffb.4_Silent_p.R170R	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	170					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TATCCCCAAGGGATTTTGATG	0.383000														11			8		0	0	0.003080	0	0
ETAA1	54465	broad.mit.edu	37	2	67631024	67631024	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:67631024C>T	uc002sdz.1	+	4	1349	c.1210C>T	c.(1210-1212)Cct>Tct	p.P404S		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	404						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGAACTCTTTCCTTCTAAAAC	0.353000														16			8		0	0	0.003080	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274140	123274140	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:123274140C>T	uc003ieh.3	+	78	13976	c.13931C>T	c.(13930-13932)cCa>cTa	p.P4644L	KIAA1109_uc003iem.3_Missense_Mutation_p.P1000L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4644					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTCAGATTCCATTACCAGAA	0.393000														14			8		0	0	0.003080	0	0
UVRAG	7405	broad.mit.edu	37	11	75852265	75852265	+	Silent	SNP	C	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:75852265C>A	uc001oxc.3	+	14	2149	c.1908C>A	c.(1906-1908)atC>atA	p.I636I	UVRAG_uc010rrw.2_Silent_p.I535I|UVRAG_uc001oxd.3_Silent_p.I264I|UVRAG_uc010rrx.2_Silent_p.I264I|UVRAG_uc010rry.2_Silent_p.I192I	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	636					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AAGAAATCATCGGGCTGGAAG	0.562000														35			4		0.00909568	0.00964098	0.009096	1	0
SYT9	143425	broad.mit.edu	37	11	7334957	7334957	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:7334957C>T	uc001mfe.3	+	2	1066	c.829C>T	c.(829-831)Cac>Tac	p.H277Y	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	277	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GACTAAAGTTCACAGAAAGAC	0.433000														38			17		0	0	0.004990	0	0
OR11G2	390439	broad.mit.edu	37	14	20666514	20666514	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:20666514G>A	uc010tlb.2	+	0	1020	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AAGCTCTGAAGAAATTTTGGG	0.358000														51			37		0	0	0.008740	0	0
CSMD3	114788	broad.mit.edu	37	8	114185975	114185975	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:114185975C>T	uc003ynu.3	-	3	844	c.685G>A	c.(685-687)Gat>Aat	p.D229N	CSMD3_uc003ynt.3_Missense_Mutation_p.D189N|CSMD3_uc011lhx.2_Missense_Mutation_p.D229N|CSMD3_uc010mcx.1_Missense_Mutation_p.D229N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	229	Sushi 1.					integral to membrane|plasma membrane		p.D229N(2)		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						ACAGGAAAATCCCACGAAGCT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				28			14		0	0	0.006122	0	0
ADAM21	8747	broad.mit.edu	37	14	70924572	70924572	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:70924572C>T	uc021rvq.1	+	0	356	c.356C>T	c.(355-357)cCt>cTt	p.P119L	ADAM21_uc001xmd.3_Missense_Mutation_p.P119L	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	119					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAGGCAGCCCCTGAGTCTCTG	0.498000														61			8		0	0	0.008291	0	0
NBEA	26960	broad.mit.edu	37	13	36229125	36229125	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr13:36229125C>T	uc021rid.1	+	52	8640	c.8106C>T	c.(8104-8106)ttC>ttT	p.F2702F	NBEA_uc021ric.1_Silent_p.F2699F|NBEA_uc010abi.3_Silent_p.F1358F|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Silent_p.F495F|NBEA_uc001uvd.3_Silent_p.F280F	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2702						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATAAGAGCTTCAGAGTTTATT	0.343000														8			9		0	0	0.004482	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625174	56625174	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:56625174A>C	uc010sqj.2	+	3	373	c.116A>C	c.(115-117)tAc>tCc	p.Y39S	SLC39A5_uc010sqi.2_Intron|SLC39A5_uc010sqk.2_Missense_Mutation_p.Y39S	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	39					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGAACCATTACCTGGCCCAG	0.652000														81			63		0	0	0.014410	0	0
SPTA1	6708	broad.mit.edu	37	1	158606485	158606485	+	Silent	SNP	C	T	T	rs141683960	by1000genomes	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:158606485C>T	uc001fst.1	-	36	5455	c.5256G>A	c.(5254-5256)ctG>ctA	p.L1752L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1752					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTGCTTCTTCAGCAAGTTCT	0.463000														29			16		0	0	0.004990	0	0
GRID1	2894	broad.mit.edu	37	10	87484330	87484330	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:87484330T>C	uc001kdl.1	-	10	1738	c.1637A>G	c.(1636-1638)aAg>aGg	p.K546R	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.K117R	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	546						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTCGGGCTTCTTAATTAGAAT	0.527000										Multiple Myeloma(13;0.14)				15			19		0	0	0.008871	0	0
ABCC11	85320	broad.mit.edu	37	16	48261785	48261785	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:48261785C>T	uc002eff.1	-	2	677	c.327G>A	c.(325-327)cgG>cgA	p.R109R	ABCC11_uc002efg.1_Silent_p.R109R|ABCC11_uc002efh.1_Silent_p.R109R|ABCC11_uc010vgl.1_Silent_p.R109R	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	109						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R109L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTAAGCGACTCCGTAAGCTTT	0.552000														41			21		0	0	0.012319	0	0
GPLD1	2822	broad.mit.edu	37	6	24447092	24447092	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:24447092C>T	uc003ned.1	-	17	1905	c.1794G>A	c.(1792-1794)ggG>ggA	p.G598G		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	598						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGGTCGGGCTCCCAACCAACA	0.577000														40			16		0	0	0.007413	0	0
C1orf168	199920	broad.mit.edu	37	1	57192203	57192203	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:57192203T>G	uc001cym.4	-	15	2253	c.1847A>C	c.(1846-1848)aAa>aCa	p.K616T	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	616										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTTCTCTTTTTTTTCCTTTGG	0.358000														7			5		0	0	0.001168	0	0
DSP	1832	broad.mit.edu	37	6	7584329	7584329	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:7584329G>A	uc003mxp.1	+	23	7113	c.6834G>A	c.(6832-6834)atG>atA	p.M2278I	DSP_uc003mxq.1_Missense_Mutation_p.M1679I|DSP_uc021yle.1_Missense_Mutation_p.M1835I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2278	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGAGGCCATGAAAATTGGCT	0.473000														81			30		0	0	0.008361	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103432657	103432657	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:103432657C>G	uc001ymi.1	-	17	2771	c.2539G>C	c.(2539-2541)Gag>Cag	p.E847Q	CDC42BPB_uc001ymj.1_5'Flank	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	847					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTCAAAGCCTCGAGCTCTTCG	0.453000														37			28		0	0	0.006320	0	0
NOMO2	283820	broad.mit.edu	37	16	18532111	18532111	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:18532111G>A	uc002dfe.3	-	18	2321	c.2249C>T	c.(2248-2250)tCg>tTg	p.S750L	NOMO2_uc002dff.3_Missense_Mutation_p.S750L|NOMO2_uc010bvx.3_Missense_Mutation_p.S583L|Mir_548_uc021teb.1_5'Flank	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA.	750						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						GAAATCATACGAGAAGGGGCC	0.507000														101			27		0	0	0.014410	0	0
GPR112	139378	broad.mit.edu	37	X	135427542	135427542	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:135427542C>T	uc004ezu.1	+	5	1968	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	GPR112_uc010nsb.1_Silent_p.F354F|GPR112_uc010nsc.1_Silent_p.F326F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	559					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTTTTCTTTCTTAACATCCT	0.403000														6			5		0	0	0.001984	0	0
GSX2	170825	broad.mit.edu	37	4	54966573	54966573	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:54966573C>T	uc010igp.1	+	0	326	c.62C>T	c.(61-63)tCg>tTg	p.S21L	PDGFRA_uc003haa.3_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	Homo sapiens GS homeobox 2 (GSX2), mRNA.	21						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CCTGCGCCCTCGCTGCCTGAA	0.672000														22			9		0	0	0.010729	0	0
ADD1	118	broad.mit.edu	37	4	2900234	2900234	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:2900234C>T	uc003gfq.3	+	7	1148	c.960C>T	c.(958-960)aaC>aaT	p.N320N	ADD1_uc010ico.1_Silent_p.N320N|ADD1_uc003gfo.3_Silent_p.N320N|ADD1_uc003gfp.3_Silent_p.N320N|ADD1_uc003gfr.3_Silent_p.N320N|ADD1_uc003gfs.3_Silent_p.N320N|ADD1_uc003gft.3_Silent_p.N320N|ADD1_uc003gfu.3_Silent_p.N105N	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	320					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACATCCATAACCTTGTGGTTG	0.473000														59			61		0	0	0.014410	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960249	73960249	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:73960249G>A	uc004eby.3	-	2	4760	c.4143C>T	c.(4141-4143)atC>atT	p.I1381I		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1381					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACCCACTGTTGATCTTTTTCT	0.443000														23			21		0	0	0.012319	0	0
C2orf71	388939	broad.mit.edu	37	2	29287774	29287774	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:29287774G>A	uc002rmt.2	-	1	3828	c.3828C>T	c.(3826-3828)tcC>tcT	p.S1276S		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1276					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCTCTGGCTGGGATTTGTCCT	0.657000														14			9		0	0	0.010729	0	0
GGT6	124975	broad.mit.edu	37	17	4461605	4461605	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:4461605C>T	uc010vsc.2	-	3	1265	c.1205G>A	c.(1204-1206)aGt>aAt	p.S402N	MYBBP1A_uc002fxz.4_5'Flank|MYBBP1A_uc002fyb.4_5'Flank|GGT6_uc010vsb.2_Missense_Mutation_p.S248N|GGT6_uc002fyd.4_Missense_Mutation_p.S396N|GGT6_uc002fyc.4_Missense_Mutation_p.S364N	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	396					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GGCCCAGGCACTAGTGGTAGA	0.622000														41			26		0	0	0.006320	0	0
VPS13B	157680	broad.mit.edu	37	8	100479817	100479817	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:100479817C>T	uc003yiv.3	+	23	3732	c.3621C>T	c.(3619-3621)ctC>ctT	p.L1207L	VPS13B_uc003yiw.3_Silent_p.L1207L|VPS13B_uc003yiu.1_Silent_p.L1207L|VPS13B_uc003yix.1_Silent_p.L677L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1207					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGTCTGTCTCCATGTTGACC	0.408000														25			18		0	0	0.008871	0	0
RYR1	6261	broad.mit.edu	37	19	39071102	39071102	+	Silent	SNP	G	A	A	rs118192169		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:39071102G>A	uc002oit.3	+	100	14734	c.14604G>A	c.(14602-14604)gaG>gaA	p.E4868E	RYR1_uc002oiu.3_Silent_p.E4863E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4868			FYNKSED -> Y (in CCD).		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)	ACAAGAGCGAGGATGAGGATG	0.557000														46			34		0	0	0.006230	0	0
PADI6	353238	broad.mit.edu	37	1	17706448	17706448	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:17706448G>A	uc001bak.1	+	3	401	c.401G>A	c.(400-402)gGg>gAg	p.G134E		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	126					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TACCGCAATGGGCAAGTTGAG	0.512000														32			19		0	0	0.014323	0	0
ITGAX	3687	broad.mit.edu	37	16	31382410	31382410	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:31382410C>T	uc002ebt.3	+	14	1783	c.1716C>T	c.(1714-1716)atC>atT	p.I572I	ITGAX_uc002ebu.1_Silent_p.I572I|ITGAX_uc010vfk.1_Silent_p.I222I	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	572					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCAGCGGATCGCGGGCTCCC	0.567000														79			55		0	0	0.014410	0	0
PRB2	653247	broad.mit.edu	37	12	11546911	11546911	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:11546911C>T	uc010shk.1	-	3	136	c.101_splice	c.e3-1	p.G34_splice		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)			TTGTGGATTTCCTGGAGAACA	0.483000														43			29		0	0	0.010818	0	0
BRD1	23774	broad.mit.edu	37	22	50217002	50217002	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:50217002G>A	uc011arg.2	-	0	978	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.R322W|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.R322W	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	322					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGTTTCCACCGGGCTGGAGGG	0.582000														60			51		0	0	0.014410	0	0
SAMD12	401474	broad.mit.edu	37	8	119391893	119391893	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:119391893C>T	uc003yom.2	-	3	498	c.369G>A	c.(367-369)ggG>ggA	p.G123G	SAMD12_uc010mda.1_Silent_p.G123G|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	123	SAM.							p.M122I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CCTGGGCAATCCCCATTCGCT	0.478000														32			11		0	0	0.001855	0	0
ACSM5	54988	broad.mit.edu	37	16	20430564	20430564	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:20430564C>T	uc002dhe.3	+	3	577	c.430C>T	c.(430-432)Ccg>Tcg	p.P144S	ACSM5_uc002dhd.1_Missense_Mutation_p.P144S	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	144					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGTGATGATTCCGGGTGTGAC	0.557000														23			13		0	0	0.001855	0	0
PON1	5444	broad.mit.edu	37	7	94953774	94953774	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:94953774A>G	uc003uns.3	-	0	111	c.14T>C	c.(13-15)aTt>aCt	p.I5T	PON1_uc011kih.2_Intron	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	5					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GGTGAGCGCAATCAGCTTCGC	0.622000														21			12		0	0	0.013537	0	0
PAFAH2	5051	broad.mit.edu	37	1	26301060	26301060	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:26301060G>A	uc001bld.4	-	8	1020	c.840C>T	c.(838-840)atC>atT	p.I280I	PAFAH2_uc001ble.4_Silent_p.I280I	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	280					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCAGTATTGATAAAGAACA	0.463000														27			14		0	0	0.003163	0	0
PPYR1	5540	broad.mit.edu	37	10	47087692	47087692	+	Silent	SNP	C	T	T	rs138885771	byFrequency	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:47087692C>T	uc001jee.3	+	2	1328	c.909C>T	c.(907-909)atC>atT	p.I303I	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.I303I|PPYR1_uc021ppu.1_Silent_p.I303I	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	303					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGAACCTCATCTTCTTAGTGT	0.552000														66			15		0	0	0.002450	0	0
MTBP	27085	broad.mit.edu	37	8	121502729	121502730	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:121502729_121502730CC>TT	uc003ypc.1	+	12	1411_1412	c.1366_1367CC>TT	c.(1366-1368)cca>TTa	p.P456L		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	456					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTATCACTTCCACATTTTTCT	0.347000														7			7		0	0	0.004672	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140737211	140737211	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:140737211C>T	uc003ljp.1	+	0	2444	c.2444C>T	c.(2443-2445)tCa>tTa	p.S815L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc011dar.2_5'Flank	NM_032053	NP_114442	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 2, mRNA.	758					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)			TATAATAGATCATACCACACT	0.323000														23			11		0	0	0.010729	0	0
DRD2	1813	broad.mit.edu	37	11	113286265	113286265	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:113286265G>A	uc001pnz.3	-	3	922	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	DRD2_uc010rwv.2_Missense_Mutation_p.P200S|DRD2_uc001poa.4_Missense_Mutation_p.P201S|DRD2_uc001pob.4_Missense_Mutation_p.P201S|DRD2_uc009yyr.1_Missense_Mutation_p.P201S	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	201					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ACAATGAAGGGCACGTAGAAG	0.597000														31			34		0	0	0.012213	0	0
SORBS2	8470	broad.mit.edu	37	4	186544548	186544548	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:186544548C>T	uc003iyg.3	-	12	2397	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.E775K|SORBS2_uc003iyl.3_Missense_Mutation_p.E675K|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.E579K|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	675						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGGCTCTTTCGTGTTTTAAC	0.542000														92			63		0	0	0.014410	0	0
PRDM13	59336	broad.mit.edu	37	6	100057179	100057179	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:100057179G>T	uc003pqg.1	+	2	654	c.393G>T	c.(391-393)gaG>gaT	p.E131D		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CTCACGACGAGAAAGGTACCC	0.542000														3			16		2.48551e-13	2.66649e-13	0.004990	1	0
NIN	51199	broad.mit.edu	37	14	51196294	51196294	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:51196294G>A	uc001wyi.3	-	28	6216	c.6025C>T	c.(6025-6027)Cag>Tag	p.Q2009*	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Nonsense_Mutation_p.Q2009*|NIN_uc001wyk.3_Nonsense_Mutation_p.Q1296*|NIN_uc001wyo.3_Nonsense_Mutation_p.Q2009*|NIN_uc001wyn.3_Non-coding_Transcript	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	2009					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGCAGGTGCTGGTTTATCCTT	0.517000			T	PDGFRB	MPD									21			12		0	0	0.002450	0	0
POTEC	388468	broad.mit.edu	37	18	14542973	14542973	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:14542973C>T	uc010dln.3	-	0	627	c.173G>A	c.(172-174)aGg>aAg	p.R58K	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	58										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CATCTTGCTCCTGAGCATCTT	0.582000														319			43		0	0	0.014410	0	0
POTEF	728378	broad.mit.edu	37	2	130832275	130832275	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:130832275C>T	uc010fmh.2	-	16	3170	c.2770G>A	c.(2770-2772)Gag>Aag	p.E924K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	924	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATCTCCTGCTCGAAGTCCAGG	0.592000														31			13		0	0	0.003163	0	0
PXDNL	137902	broad.mit.edu	37	8	52320774	52320774	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:52320774G>A	uc003xqu.4	-	16	3511	c.3410C>T	c.(3409-3411)tCg>tTg	p.S1137L	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1137					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)				GGTGGCAGCCGAATCCACGGC	0.522000														83			162		0	0	0.014410	0	0
TTC7A	57217	broad.mit.edu	37	2	47249053	47249054	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:47249053_47249054CC>TT	uc010fbb.3	+	11	1813_1814	c.1445_1446CC>TT	c.(1444-1446)gcc>gTT	p.A482V	TTC7A_uc002rvm.3_Missense_Mutation_p.A448V|TTC7A_uc002rvn.1_Missense_Mutation_p.A363V|TTC7A_uc002rvo.3_Missense_Mutation_p.A482V|TTC7A_uc010fbc.3_Missense_Mutation_p.A128V|TTC7A_uc002rvp.3_Missense_Mutation_p.A363V|TTC7A_uc002rvq.3_Missense_Mutation_p.A222V|TTC7A_uc002rvr.3_Intron	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	482							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GGAGAGGAAGCCGGGGAGTTCC	0.604000														45			39		0	0	0.004672	0	0
CEP350	9857	broad.mit.edu	37	1	180034295	180034296	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:180034295_180034296CC>TT	uc001gnt.3	+	26	5838_5839	c.5455_5456CC>TT	c.(5455-5457)cct>TTt	p.P1819F	CEP350_uc009wxl.2_Missense_Mutation_p.P1818F	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1819						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGCAACCAGTCCTGGTCCAACT	0.431000														7			6		0	0	0.004672	0	0
RFPL1	5988	broad.mit.edu	37	22	29835113	29835113	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:29835113G>A	uc003afn.3	+	0	542	c.333G>A	c.(331-333)aaG>aaA	p.K111K	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	111	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCAAGCTGAAGAAGATTCTGC	0.517000														46			26		0	0	0.007291	0	0
BPIFC	254240	broad.mit.edu	37	22	32853355	32853355	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:32853355G>A	uc003amn.2	-	0	19	c.19C>T	c.(19-21)Cca>Tca	p.P7S	BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_5'UTR|BPIFC_uc003amo.4_Missense_Mutation_p.P7S	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	7						extracellular region	lipopolysaccharide binding|phospholipid binding										CAGAGGACTGGGATTGTCTTT	0.398000											OREG0003513	type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		29			16		0	0	0.004007	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781885	128781885	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:128781885C>T	uc001qet.3	+	1	1031	c.717C>T	c.(715-717)atC>atT	p.I239I	KCNJ5_uc009zck.3_Silent_p.I239I|KCNJ5_uc001qew.3_Silent_p.I239I	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	239					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCAAGCTCATCAAGTCCCGGC	0.612000														62			44		0	0	0.014410	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999963	46999964	+	Missense_Mutation	DNP	TG	GT	GT			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:46999963_46999964TG>GT	uc001jec.3	+	2	1218_1219	c.1083_1084TG>GT	c.(1081-1086)catgtg>caGTtg	p.361_362HV>QL	GPRIN2_uc021ppt.1_Missense_Mutation_p.361_362HV>QL	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	361										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CAGCCCTGCATGTGTTCCCAGA	0.673000														102			25		0	0	0.004672	0	0
EDEM3	80267	broad.mit.edu	37	1	184663419	184663419	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:184663419G>A	uc010pom.2	-	20	2886	c.2625C>T	c.(2623-2625)tcC>tcT	p.S875S	EDEM3_uc010pok.2_Silent_p.S859S|EDEM3_uc010pol.2_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	859					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTTCAGAAGGGGAAATGCTTG	0.373000														4			8		0	0	0.004482	0	0
DTNA	1837	broad.mit.edu	37	18	32345942	32345942	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:32345942C>T	uc010dmn.1	+	1	86	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	DTNA_uc002kxu.2_Missense_Mutation_p.R29C|DTNA_uc010xbx.2_Missense_Mutation_p.R29C|DTNA_uc002kxv.4_Missense_Mutation_p.R29C|DTNA_uc002kxw.2_Missense_Mutation_p.R29C|DTNA_uc002kxx.2_Missense_Mutation_p.R29C|DTNA_uc002kxz.2_Missense_Mutation_p.R29C|DTNA_uc002kxy.2_Missense_Mutation_p.R29C|DTNA_uc010dmj.3_Missense_Mutation_p.R29C|DTNA_uc002kyb.4_Missense_Mutation_p.R29C|DTNA_uc010dml.3_Missense_Mutation_p.R29C|DTNA_uc010dmm.3_Missense_Mutation_p.R29C	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	29	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGATCTGGATCGCATCCGACT	0.408000														13			12		0	0	0.004007	0	0
ODZ3	55714	broad.mit.edu	37	4	183522201	183522201	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:183522201G>A	uc003ivd.1	+	2	711	c.636G>A	c.(634-636)agG>agA	p.R212R	ODZ3_uc021xux.1_Silent_p.R119R	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	212	Teneurin N-terminal.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCAATAGAAGGAACCAGAGTC	0.587000														79			58		0	0	0.014410	0	0
HUWE1	10075	broad.mit.edu	37	X	53612009	53612009	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:53612009C>T	uc004dsp.3	-	39	5366	c.4964G>A	c.(4963-4965)cGa>cAa	p.R1655Q	HUWE1_uc004dsn.3_Missense_Mutation_p.R480Q	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1655	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTATCTTCTTCGGCCTGCAGT	0.507000														54			40		0	0	0.011902	0	0
FILIP1L	11259	broad.mit.edu	37	3	99568213	99568213	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:99568213C>T	uc003dtm.3	-	4	2770	c.2307G>A	c.(2305-2307)aaG>aaA	p.K769K	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Silent_p.K769K|FILIP1L_uc010hpf.3_Silent_p.K345K|FILIP1L_uc010hpg.3_Silent_p.K529K|FILIP1L_uc003dtn.3_Silent_p.K529K|FILIP1L_uc021xbr.1_Silent_p.K529K|FILIP1L_uc003dtp.1_Silent_p.K529K	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	769						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TCTCTAACTCCTTAGTGAGGT	0.408000														20			18		0	0	0.008871	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200819197	200819197	+	Silent	SNP	C	T	T	rs141562761		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:200819197C>T	uc001gvl.3	+	11	3603	c.3333C>T	c.(3331-3333)ccC>ccT	p.P1111P	CAMSAP2_uc001gvk.3_Silent_p.P1100P|CAMSAP2_uc001gvm.3_Silent_p.P1084P	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1111						cytoplasm|microtubule	protein binding										CTCCTAAACCCGTTTTCCCAC	0.443000														18			11		0	0	0.010729	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781893	128781893	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:128781893G>A	uc001qet.3	+	1	1039	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	KCNJ5_uc009zck.3_Missense_Mutation_p.R242Q|KCNJ5_uc001qew.3_Missense_Mutation_p.R242Q	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	242					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ATCAAGTCCCGGCAGACCAAA	0.612000														66			42		0	0	0.011902	0	0
HERPUD1	9709	broad.mit.edu	37	16	56977182	56977182	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:56977182C>T	uc002eke.1	+	7	1565	c.1156C>T	c.(1156-1158)Ccc>Tcc	p.P386S	HERPUD1_uc002ekf.1_Missense_Mutation_p.P385S|HERPUD1_uc002ekg.1_Missense_Mutation_p.P361S|HERPUD1_uc010cco.1_3'UTR|HERPUD1_uc010ccp.1_Missense_Mutation_p.P288S|HERPUD1_uc002ekh.1_Missense_Mutation_p.P204S	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	386						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TCCAGAAGGCCCCCCAGCCAT	0.527000			T	ERG	prostate									98			53		0	0	0.014410	0	0
ZNF445	353274	broad.mit.edu	37	3	44489458	44489458	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:44489458G>A	uc003cnf.2	-	7	2053	c.1705C>T	c.(1705-1707)Ctt>Ttt	p.L569F	ZNF445_uc011azv.1_Missense_Mutation_p.L557F|ZNF445_uc011azw.1_Missense_Mutation_p.L569F	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	569					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)		TTCAATTCAAGAAATTTCTTC	0.468000														41			18		0	0	0.008871	0	0
AKAP6	9472	broad.mit.edu	37	14	32902941	32902941	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:32902941C>T	uc001wrq.3	+	1	412	c.242C>T	c.(241-243)tCa>tTa	p.S81L	AKAP6_uc010aml.3_Missense_Mutation_p.S78L	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	81					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)		CGGATGACCTCAGAGAGGGTC	0.507000														11			6		0	0	0.001168	0	0
MYCN	4613	broad.mit.edu	37	2	16085831	16085831	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:16085831C>T	uc002rci.3	+	2	1307	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F	MYCN_uc010yjr.2_Missense_Mutation_p.S336F	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	336					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCCGCCCCCTCTCCCTACGTG	0.612000			A		neuroblastoma									6			12		0	0	0.010729	0	0
SETBP1	26040	broad.mit.edu	37	18	42618621	42618621	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:42618621G>A	uc010dni.3	+	5	4467	c.4171_splice	c.e5+1	p.V1391_splice		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1391						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCGGATGCAGGTGAGCACTTT	0.493000									Schinzel-Giedion syndrome					11			8		0	0	0.004482	0	0
CFI	3426	broad.mit.edu	37	4	110682704	110682704	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:110682704G>A	uc011cft.2	-	3	835	c.627C>T	c.(625-627)ttC>ttT	p.F209F	CFI_uc003hzq.3_Silent_p.F6F|CFI_uc003hzr.4_Silent_p.F209F	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	209	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.F209F(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCACATCAGCGAAATCCTGGT	0.393000														20			12		0	0	0.001855	0	0
L1TD1	54596	broad.mit.edu	37	1	62672587	62672587	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:62672587C>T	uc021ooc.1	+	3	722	c.287C>T	c.(286-288)tCc>tTc	p.S96F	L1TD1_uc001dae.4_Missense_Mutation_p.S96F	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	96										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						tcaGAGAACTCCAGTAGTAGG	0.368000														38			28		0	0	0.010818	0	0
SAMD7	344658	broad.mit.edu	37	3	169654200	169654200	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:169654200G>A	uc003fgd.3	+	7	1382	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	SAMD7_uc003fge.3_Missense_Mutation_p.G372E|SAMD7_uc011bpo.2_Missense_Mutation_p.G273E	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	372	SAM.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGCACTATGGGATTAAAGCTA	0.343000														19			6		0	0	0.004482	0	0
LY86	9450	broad.mit.edu	37	6	6588994	6588994	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:6588994C>T	uc003mwy.1	+	0	61	c.27C>T	c.(25-27)ttC>ttT	p.F9F	LY86-AS1_uc003mww.4_Intron|LY86-AS1_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	9					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CCACTCTCTTCCTCTGGACTC	0.542000														23			39		0	0	0.007835	0	0
BTBD11	121551	broad.mit.edu	37	12	108011078	108011078	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:108011078G>A	uc001tmk.1	+	9	2617	c.2096_splice	c.e9-1	p.G699_splice	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Splice_Site_p.G699_splice|BTBD11_uc001tml.1_Splice_Site_p.G236_splice	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	699						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGGCTTGCAGGAAATTTTGAG	0.502000														58			39		0	0	0.011902	0	0
OR52M1	119772	broad.mit.edu	37	11	4567217	4567217	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:4567217G>A	uc010qyf.2	+	0	797	c.797G>A	c.(796-798)cGa>cAa	p.R266Q		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATTCACCGATTTGGTCAG	0.507000														15			9		0	0	0.006214	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512832	41512832	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:41512832C>T	uc002opr.1	+	3	514	c.507C>T	c.(505-507)ttC>ttT	p.F169F	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	169					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCCCACCTTCCTCTTCCAGT	0.502000														11			13		0	0	0.001855	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997134	19997134	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:19997134C>T	uc002ktv.1	-	0	745	c.641G>A	c.(640-642)aGa>aAa	p.R214K		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	214						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTCAAATGTTCTTTTCTGTTT	0.363000														40			55		0	0	0.014410	0	0
SBF1	6305	broad.mit.edu	37	22	50898538	50898538	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:50898538G>A	uc003blh.3	-	25	3529	c.3334C>T	c.(3334-3336)Ccc>Tcc	p.P1112S	SBF1_uc011arx.2_Missense_Mutation_p.P776S	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1112					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGTCGGAGGGCTTCAGGGCT	0.692000														27			14		0	0	0.003163	0	0
DMRT3	58524	broad.mit.edu	37	9	990589	990589	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:990589C>T	uc003zgw.1	+	1	1041	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	335					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ATCAGCCTTTCGAGTCCCAGA	0.577000														17			26		0	0	0.007291	0	0
MAMDC2	256691	broad.mit.edu	37	9	72755146	72755146	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:72755146G>A	uc004ahm.2	+	7	1697	c.1080G>A	c.(1078-1080)tgG>tgA	p.W360*	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	360	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTCCAGGTTGGACCCGAGTGA	0.463000														15			13		0	0	0.002450	0	0
FAM221B	392307	broad.mit.edu	37	9	35825669	35825669	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:35825669C>T	uc010mlc.2	-	1	775	c.490G>A	c.(490-492)Gtc>Atc	p.V164I	FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Missense_Mutation_p.V164I	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA.	164										endometrium(2)|kidney(1)|lung(4)	7						TCCACTTGGACCTGGGATGAA	0.522000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			65		0	0	0.014410	0	0
IFRD2	7866	broad.mit.edu	37	3	50327709	50327709	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:50327709C>T	uc003czb.3	-	6	778	c.778G>A	c.(778-780)Ggt>Agt	p.G260S	IFRD2_uc011bdp.2_Missense_Mutation_p.G158S	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	158							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCAAGAGCACCCTGCCGGGTC	0.652000														11			13		0	0	0.002450	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76968665	76968666	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:76968665_76968666GG>AA	uc002jwh.3	-	5	929_930	c.750_751CC>TT	c.(748-753)ctcctc>ctTTtc	p.L251F	LGALS3BP_uc002jwi.3_Missense_Mutation_p.L57F	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	251					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCTGGGGGAGGAGGATGGCAA	0.619000														9			65		0	0	0.004672	0	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718677	1718677	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:1718677G>A	uc001lua.3	+	0	253	c.202G>A	c.(202-204)Ggg>Agg	p.G68R	MOB2_uc001ltq.2_Intron	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN	Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA.	68	6 X 4 AA repeats of C-C-X-P.					keratin filament		p.G68E(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGCTCCAAAGGGGGCTGTGG	0.642000														101			88		0	0	0.014410	0	0
COL6A3	1293	broad.mit.edu	37	2	238249496	238249496	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:238249496G>A	uc002vwl.2	-	37	8348	c.8063C>T	c.(8062-8064)tCc>tTc	p.S2688F	COL6A3_uc002vwo.2_Missense_Mutation_p.S2482F|COL6A3_uc010znj.1_Missense_Mutation_p.S2081F|COL6A3_uc002vwj.2_Missense_Mutation_p.S69F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2688	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCAGTCAGGGAGAATTCCAC	0.582000														28			22		0	0	0.012319	0	0
TINAG	27283	broad.mit.edu	37	6	54191661	54191661	+	Missense_Mutation	SNP	C	T	T	rs115438249	byFrequency	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:54191661C>T	uc003pcj.2	+	3	717	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	191					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191C(2)|p.R191H(1)|p.R191L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373000														13			7		0	0	0.004482	0	0
CACNA1I	8911	broad.mit.edu	37	22	40054286	40054286	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:40054286G>A	uc003ayc.3	+	10	2122	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N	CACNA1I_uc003ayd.3_Missense_Mutation_p.D673N|CACNA1I_uc003aye.3_Missense_Mutation_p.D623N|CACNA1I_uc003ayf.3_Missense_Mutation_p.D588N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	708					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAACATCTTCGACAGCATCAT	0.542000														26			20		0	0	0.007413	0	0
NF1	4763	broad.mit.edu	37	17	29533315	29533315	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:29533315C>T	uc002hgg.3	+	11	1701	c.1318C>T	c.(1318-1320)Cga>Tga	p.R440*	NF1_uc002hge.2_Nonsense_Mutation_p.R440*|NF1_uc002hgf.2_Nonsense_Mutation_p.R440*|NF1_uc002hgh.3_Nonsense_Mutation_p.R440*|NF1_uc010csn.2_Nonsense_Mutation_p.R300*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	440					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)|p.R440*(6)|p.R440>?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTTGAACTTCGAAATATGTT	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				4			38		0	0	0.005524	0	0
FRMPD4	9758	broad.mit.edu	37	X	12704292	12704292	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:12704292C>T	uc004cuz.2	+	6	1156	c.650C>T	c.(649-651)tCa>tTa	p.S217L	FRMPD4_uc011mij.2_Missense_Mutation_p.S209L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	217	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAGACCAAATCATTTCGTTTT	0.413000														16			12		0	0	0.002450	0	0
CXorf22	170063	broad.mit.edu	37	X	35971783	35971783	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:35971783C>T	uc004ddj.3	+	6	1187	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	374										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGATTTGAGTCCGTAGGAAGT	0.323000														8			12		0	0	0.001855	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966904	39966904	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:39966904C>T	uc003ayc.3	+	0	147	c.147C>T	c.(145-147)gtC>gtT	p.V49V	CACNA1I_uc003ayd.3_Silent_p.V49V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	49					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ATCCTCATGTCCCACACCCAG	0.657000														54			41		0	0	0.009718	0	0
abParts	0	broad.mit.edu	37	14	106899287	106899287	+	RNA	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:106899287C>T	uc021ser.1	-	374		c.12341G>A								Parts of antibodies, mostly variable regions.																		GTCTCAGGGACCCCCCAGGCT	0.597000														5			13		0	0	0.003163	0	0
DNAH2	146754	broad.mit.edu	37	17	7722568	7722568	+	Silent	SNP	C	T	T	rs111592711		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:7722568C>T	uc002giu.1	+	70	10871	c.10857C>T	c.(10855-10857)ttC>ttT	p.F3619F	DNAH2_uc010cnm.1_Silent_p.F557F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3619					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCTGTTCTTCGTGCTCAATG	0.587000														39			30		0	0	0.009535	0	0
FOXN1	8456	broad.mit.edu	37	17	26861437	26861437	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:26861437C>T	uc010crm.3	+	6	1214	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	FOXN1_uc002hbj.3_Missense_Mutation_p.S339F	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	339					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TCAGGAAGTTCCTCCCGCAAG	0.547000														31			27		0	0	0.003954	0	0
FAM135B	51059	broad.mit.edu	37	8	139164878	139164878	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:139164878C>T	uc003yuy.3	-	12	2011	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	FAM135B_uc003yux.3_Missense_Mutation_p.E515K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E176K|FAM135B_uc003yvb.3_Missense_Mutation_p.E176K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	614										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)			GTACTTAATTCATGGAGAGTT	0.453000										HNSCC(54;0.14)				88			27		0	0	0.005443	0	0
BRCA2	675	broad.mit.edu	37	13	32914692	32914692	+	Missense_Mutation	SNP	C	T	T	rs80359565		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr13:32914692C>T	uc001uub.1	+	10	6427	c.6200C>T	c.(6199-6201)tCc>tTc	p.S2067F		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2067					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGCAAGTTTCCATTTTAGAA	0.353000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				22			12		0	0	0.013537	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296158	39296158	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:39296158G>A	uc010cxk.2	-	0	582	c.582C>T	c.(580-582)tgC>tgT	p.C194C		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	190						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGGGACGGGGGCAGGTGGAAA	0.612000														7			3		0	0	0.009096	0	0
THSD7B	80731	broad.mit.edu	37	2	137813992	137813992	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:137813992C>T	uc002tva.1	+	1	49	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S	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.											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)		GCCTGTAGGTCCGTGGGGAAG	0.473000														8			8		0	0	0.006214	0	0
LRP1B	53353	broad.mit.edu	37	2	141986907	141986907	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:141986907C>T	uc002tvj.1	-	5	1667	c.695G>A	c.(694-696)gGa>gAa	p.G232E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	232					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.N231N(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)		AATTTCATTTCCATTGACTGA	0.299000										TSP Lung(27;0.18)				6			12		0	0	0.013537	0	0
CHST1	8534	broad.mit.edu	37	11	45671313	45671313	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:45671313G>A	uc021qgn.1	-	0	1161	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	CHST1_uc001mys.2_Silent_p.I387I	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	387					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCGAGGCGGCGATCTTGTAGC	0.701000														51			36		0	0	0.007835	0	0
COQ6	51004	broad.mit.edu	37	14	74428237	74428237	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:74428237C>G	uc001xph.3	+	9	1255	c.1174C>G	c.(1174-1176)Cac>Gac	p.H392D	ENTPD5_uc001xpi.3_Intron|COQ6_uc001xpe.3_Missense_Mutation_p.H317D|COQ6_uc010tuk.2_Missense_Mutation_p.H367D|COQ6_uc021rwk.1_Missense_Mutation_p.H317D	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	Homo sapiens coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (COQ6), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	392					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CTTGGCCCATCACCTCAGTAC	0.507000														22			10		0	0	0.010729	0	0
DUSP22	56940	broad.mit.edu	37	6	348139	348139	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:348139C>T	uc003msx.3	+	5	739	c.300C>T	c.(298-300)atC>atT	p.I100I	DUSP22_uc011dhn.1_Silent_p.I100I|DUSP22_uc003msy.1_Silent_p.I57I	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	100	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I100M(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CACTGGTGATCGCATACATCA	0.607000														326			60		0	0	0.014410	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085151	80085151	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:80085151G>A	uc010ysh.2	+	2	316	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	CTNNA2_uc010yse.2_Missense_Mutation_p.R104Q|CTNNA2_uc010ysf.2_Missense_Mutation_p.R104Q|CTNNA2_uc010ysg.2_Missense_Mutation_p.R104Q	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	104					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R104W(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGACGATGCGGATCGCCTCC	0.562000														49			33		0	0	0.013726	0	0
SOGA2	23255	broad.mit.edu	37	18	8784733	8784733	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:8784733C>T	uc002knr.2	+	5	1765	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	SOGA2_uc002knq.2_Silent_p.S541S|SOGA2_uc010dkw.1_Silent_p.S379S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	892																	ATGGCCTATCCCCCTTGCCCC	0.617000														51			93		0	0	0.014410	0	0
ABCC11	85320	broad.mit.edu	37	16	48231955	48231955	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:48231955C>T	uc002eff.1	-	15	2591	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	ABCC11_uc002efg.1_Silent_p.K747K|ABCC11_uc002efh.1_Silent_p.K747K|ABCC11_uc010vgk.1_Intron	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	747						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCTCTGCTATCTTTGCTGTGT	0.557000														42			25		0	0	0.004656	0	0
X97876	0	broad.mit.edu	37	9	66499904	66499904	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:66499904C>T	uc004aee.1	+	0	714	c.714C>T	c.(712-714)ggC>ggT	p.G238G	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		ACATGAAGGGCGGGTAACCTG	0.542000														10			4		0	0	0.003080	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398304	23398304	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:23398304G>A	uc004dal.4	+	1	956	c.948G>A	c.(946-948)ggG>ggA	p.G316G	PTCHD1_uc010nfu.2_Silent_p.G316G	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	316	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTGCAGCCGGGATCATCAATC	0.522000														52			30		0	0	0.009535	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455739	5455739	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:5455739C>T	uc002mca.4	+	0	314	c.237C>T	c.(235-237)gcC>gcT	p.A79A		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	79						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGGGCCGAGCCCTCGTGGCAG	0.667000														61			51		0	0	0.014410	0	0
BTBD16	118663	broad.mit.edu	37	10	124043430	124043430	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:124043430G>A	uc001lgc.1	+	3	483	c.232G>A	c.(232-234)Ggg>Agg	p.G78R	BTBD16_uc001lgd.1_Missense_Mutation_p.G77R	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	78								p.G78V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CATCCAAAGTGGGGAAGCAGG	0.398000														16			6		0	0	0.001168	0	0
NLRP10	338322	broad.mit.edu	37	11	7984773	7984773	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:7984773G>A	uc001mfv.1	-	0	287	c.270C>T	c.(268-270)ctC>ctT	p.L90L		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	90	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAATATGGCTGAGCTGGTCCA	0.527000														24			15		0	0	0.004007	0	0
FARP2	9855	broad.mit.edu	37	2	242396209	242396210	+	Missense_Mutation	DNP	CC	TT	TT	rs145630778	by1000genomes	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:242396209_242396210CC>TT	uc002wbi.2	+	13	1623_1624	c.1459_1460CC>TT	c.(1459-1461)ccc>TTc	p.P487F	FARP2_uc010zoq.2_Missense_Mutation_p.P487F|FARP2_uc010zor.2_Missense_Mutation_p.P487F	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	487	Pro-rich.				Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCGGAAGAGCCCCCTGAGTCTG	0.619000														64			48		0	0	0.004672	0	0
X97876	0	broad.mit.edu	37	9	66499897	66499897	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:66499897T>C	uc004aee.1	+	0	707	c.707T>C	c.(706-708)aTg>aCg	p.M236T	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GCCATGTACATGAAGGGCGGG	0.552000														10			6		0	0	0.008291	0	0
SRRT	51593	broad.mit.edu	37	7	100484463	100484463	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:100484463G>A	uc003uwy.2	+	13	1962	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L	SRRT_uc010lhl.1_Silent_p.L564L|SRRT_uc003uxa.2_Silent_p.L564L|SRRT_uc003uwz.2_Silent_p.L565L	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	565					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCGACTACCTGATCGAGGAAG	0.577000														27			23		0	0	0.014323	0	0
OASL	8638	broad.mit.edu	37	12	121471375	121471375	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:121471375C>T	uc001tzj.1	-	1	376	c.370G>A	c.(370-372)Gag>Aag	p.E124K	OASL_uc001tzk.1_Missense_Mutation_p.E124K	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	124					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCAGGTCCTCGAGCCCGAGG	0.577000														254			201		0	0	0.014410	0	0
XDH	7498	broad.mit.edu	37	2	31599976	31599977	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:31599976_31599977CC>TT	uc002rnv.1	-	13	1448_1449	c.1369_1370GG>AA	c.(1369-1371)ggt>AAt	p.G457N		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	457					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)	GGCCATTCCACCATAGCAAAGG	0.510000														42			35		0	0	0.004672	0	0
GPR128	84873	broad.mit.edu	37	3	100413831	100413831	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:100413831A>G	uc003duc.3	+	15	2648	c.2380A>G	c.(2380-2382)Aag>Gag	p.K794E	GPR128_uc011bhc.2_Missense_Mutation_p.K495E|GPR128_uc003dud.3_Missense_Mutation_p.K317E	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	794					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGACAATGCAAAGGAAAGCAT	0.408000														26			22		0	0	0.014323	0	0
CXCR2	3579	broad.mit.edu	37	2	218999642	218999642	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:218999642G>A	uc002vgz.2	+	3	328	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	CXCR2_uc002vha.2_Missense_Mutation_p.E40K|CXCR2_uc002vhb.2_Missense_Mutation_p.E40K|CXCR2_uc021vwp.1_Missense_Mutation_p.E40K	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	40					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CGCCCCATGTGAACCAGAATC	0.468000														67			48		0	0	0.014410	0	0
SYNJ1	8867	broad.mit.edu	37	21	34018757	34018757	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr21:34018757G>A	uc002yqh.2	-	23	3310	c.3310C>T	c.(3310-3312)Ccc>Tcc	p.P1104S	SYNJ1_uc011ads.1_Missense_Mutation_p.P1060S|SYNJ1_uc002yqf.2_Missense_Mutation_p.P1065S|SYNJ1_uc002yqg.2_Missense_Mutation_p.P1060S|SYNJ1_uc002yqi.2_Missense_Mutation_p.P1104S	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1065	Pro-rich.			Missing (in Ref. 1; BAA74933).			RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGTCTGATGGGAAGGGAAGGT	0.527000														77			59		0	0	0.014410	0	0
OR2T3	343173	broad.mit.edu	37	1	248637593	248637593	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:248637593G>A	uc001iel.1	+	0	942	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R313R(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			AGTCAAGAATGAACCAAGAAA	0.488000														74			26		0	0	0.005443	0	0
C12orf50	160419	broad.mit.edu	37	12	88379815	88379815	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:88379815C>T	uc001tam.1	-	10	1106	c.938G>A	c.(937-939)aGa>aAa	p.R313K	C12orf50_uc001tan.3_Missense_Mutation_p.R328K	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	313										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATTTTGGGGTCTTGGGGCCTG	0.423000														11			11		0	0	0.010729	0	0
ARID5B	84159	broad.mit.edu	37	10	63700073	63700073	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:63700073G>A	uc001jlt.2	+	2	864	c.408G>A	c.(406-408)agG>agA	p.R136R	ARID5B_uc010qil.2_Silent_p.R136R	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	136					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CCTTGGGAAGGAATGGACAGA	0.488000														8			8		0	0	0.003080	0	0
SPTBN4	57731	broad.mit.edu	37	19	41071462	41071462	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:41071462G>A	uc002ony.3	+	27	6135	c.6049G>A	c.(6049-6051)Gat>Aat	p.D2017N	SPTBN4_uc002onz.3_Missense_Mutation_p.D2017N|SPTBN4_uc010egx.3_Missense_Mutation_p.D760N	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2017					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCCATGGCTGATGAGGTGGG	0.657000														15			7		0	0	0.001984	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450857	85450857	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:85450857G>A	uc001tac.3	+	7	2397	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K	LRRIQ1_uc021rbo.1_Silent_p.K640K|LRRIQ1_uc001taa.1_Silent_p.K737K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	762										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCAACAAAAGAAAATTGTTA	0.378000														22			20		0	0	0.008871	0	0
OR5M3	219482	broad.mit.edu	37	11	56237408	56237408	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:56237408C>T	uc010rjk.2	-	0	607	c.566G>A	c.(565-567)gGg>gAg	p.G189E	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G189R(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TACAAAGGTCCCAGCACAGGC	0.398000														18			7		0	0	0.003080	0	0
GALNTL2	117248	broad.mit.edu	37	3	16237400	16237400	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:16237400G>A	uc003car.4	+	1	1148	c.673G>A	c.(673-675)Gag>Aag	p.E225K	GALNTL2_uc003caq.4_5'UTR	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	225	Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						CTTCCTGAAGGAGATCATCCT	0.607000														20			15		0	0	0.004990	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20890120	20890120	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:20890120G>A	uc010sii.2	+	11	1817	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	SLCO1C1_uc010sij.2_Missense_Mutation_p.E439K|SLCO1C1_uc009zip.3_Missense_Mutation_p.E322K|SLCO1C1_uc001rei.3_Missense_Mutation_p.E488K|SLCO1C1_uc010sik.2_Missense_Mutation_p.E370K	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	488	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GACAAAATGGGAACCCATGTG	0.378000														11			6		0	0	0.001168	0	0
UBE4A	9354	broad.mit.edu	37	11	118239494	118239494	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:118239494G>A	uc001psw.3	+	2	405	c.270G>A	c.(268-270)agG>agA	p.R90R	UBE4A_uc001psv.3_Silent_p.R90R	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	90					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGATCCAAAGGATCTTCCTTA	0.433000														54			29		0	0	0.005443	0	0
MUC17	140453	broad.mit.edu	37	7	100676391	100676391	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:100676391C>T	uc003uxp.1	+	2	1747	c.1694C>T	c.(1693-1695)cCt>cTt	p.P565L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	565	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTCAACTCCTAGTGAAGGA	0.498000														157			105		0	0	0.014410	0	0
SRRT	51593	broad.mit.edu	37	7	100484465	100484465	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:100484465T>A	uc003uwy.2	+	13	1964	c.1697T>A	c.(1696-1698)aTc>aAc	p.I566N	SRRT_uc010lhl.1_Missense_Mutation_p.I565N|SRRT_uc003uxa.2_Missense_Mutation_p.I565N|SRRT_uc003uwz.2_Missense_Mutation_p.I566N	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	566					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACTACCTGATCGAGGAAGTA	0.582000														25			25		0	0	0.003330	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44806095	44806095	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:44806095C>T	uc003tlr.3	+	17	2611	c.2488C>T	c.(2488-2490)Cct>Tct	p.P830S	ZMIZ2_uc003tlq.3_Missense_Mutation_p.P772S|ZMIZ2_uc003tls.3_Missense_Mutation_p.P804S|ZMIZ2_uc003tlt.3_Missense_Mutation_p.P453S|ZMIZ2_uc010kyj.3_Missense_Mutation_p.P352S|ZMIZ2_uc003tlu.3_Missense_Mutation_p.P111S|ZMIZ2_uc010kyk.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	830	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTGGGGCCCCTCCAGGTCC	0.597000														59			52		0	0	0.014410	0	0
SOX3	6658	broad.mit.edu	37	X	139586840	139586840	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:139586840C>G	uc004fbd.1	-	0	386	c.386G>C	c.(385-387)gGa>gCa	p.G129A		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	129	Poly-Gly.				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCCGCCACCTCCGCTCGCACC	0.721000														29			4		0	0	0.009096	0	0
abParts	0	broad.mit.edu	37	14	107095556	107095556	+	RNA	SNP	T	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:107095556T>C	uc021ser.1	-	112		c.4940A>G								Parts of antibodies, mostly variable regions.																		ACCACAGGTGTTTCATGTTCT	0.532000														69			3		0	0	0.001984	0	0
GLIS3	169792	broad.mit.edu	37	9	4118848	4118848	+	Silent	SNP	C	T	T	rs143229220	byFrequency	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:4118848C>T	uc003zhx.1	-	3	1343	c.630G>A	c.(628-630)acG>acA	p.T210T	GLIS3_uc003zic.1_Silent_p.T210T|GLIS3_uc003zie.1_Silent_p.T210T|GLIS3_uc010mhh.1_Silent_p.T85T|GLIS3_uc003zid.1_5'UTR|GLIS3_uc010mhi.1_Silent_p.T17T|GLIS3_uc003zif.1_5'UTR|GLIS3_uc003zih.1_5'UTR|GLIS3_uc003zig.1_Silent_p.T54T|GLIS3_uc003zhw.1_Silent_p.T55T|GLIS3_uc003zhy.1_5'UTR|GLIS3_uc003zhz.1_5'UTR|GLIS3_uc003zib.1_Silent_p.T54T|GLIS3_uc010mhg.1_5'UTR	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	55					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GACTCAAGGTCGTGGACGCCA	0.512000														14			11		0	0	0.013537	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454314	84454314	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr13:84454314G>A	uc001vlk.3	-	0	2215	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	443						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCAGCCCCGCGAATTTCTCCC	0.507000														33			29		0	0	0.005443	0	0
FAM71B	153745	broad.mit.edu	37	5	156590570	156590570	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:156590570C>T	uc003lwn.3	-	1	806	c.706G>A	c.(706-708)Gga>Aga	p.G236R		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	236	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTTGGATTCCCTCTCCCCCA	0.587000														88			59		0	0	0.014410	0	0
SVEP1	79987	broad.mit.edu	37	9	113170312	113170312	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:113170312G>A	uc010mtz.3	-	37	7905	c.7568C>T	c.(7567-7569)tCt>tTt	p.S2523F	SVEP1_uc010mty.3_Missense_Mutation_p.S449F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2523	Sushi 19.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCGGTTGCAAGAGTAGGTAAC	0.483000														5			13		0	0	0.013537	0	0
NLRP3	114548	broad.mit.edu	37	1	247599429	247599429	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:247599429C>T	uc001icr.3	+	7	2794	c.2656C>T	c.(2656-2658)Ctg>Ttg	p.L886L	NLRP3_uc001ics.3_Intron|NLRP3_uc001icu.3_Silent_p.L886L|NLRP3_uc001icw.3_Silent_p.L829L|NLRP3_uc001icv.3_Intron|NLRP3_uc010pyw.2_Silent_p.L864L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	886					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAGTGTAACCTGCAGAAACT	0.453000														17			17		0	0	0.008871	0	0
SPATA2	9825	broad.mit.edu	37	20	48524859	48524859	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr20:48524859G>A	uc010gie.3	-	1	519	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	SPATA2_uc002xuw.3_Missense_Mutation_p.P57S|SPATA2_uc010zyn.2_Intron	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	57					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGATAAAAGGGATCCACCTTG	0.617000														50			26		0	0	0.005443	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555495	155555495	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:155555495G>A	uc002tyv.1	+	0	403	c.208G>A	c.(208-210)Gac>Aac	p.D70N	KCNJ3_uc010zce.1_Missense_Mutation_p.D70N|KCNJ3_uc021vrh.1_Missense_Mutation_p.D70N	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	70					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.D70Y(2)|p.S69W(1)|p.D70E(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTACCTCTCGGACCTCTTCAC	0.592000														26			16		0	0	0.004007	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49340728	49340728	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:49340728G>A	uc002pkx.3	-	19	2709	c.2158C>T	c.(2158-2160)Ccc>Tcc	p.P720S	HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc010eml.3_3'UTR	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	720						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GATCTGGGGGGAGGGGTCTCC	0.687000														63			42		0	0	0.014410	0	0
SERPINB2	5055	broad.mit.edu	37	18	61562584	61562584	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:61562584C>T	uc010xeu.2	+	3	588	c.255C>T	c.(253-255)atC>atT	p.I85I	SERPINB2_uc002ljo.3_Silent_p.I85I|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	85					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGCAGCAGATCCAGAAGGGTA	0.433000														24			53		0	0	0.014410	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1857613	1857613	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:1857613C>T	uc003wpr.3	+	17	2298	c.2120C>T	c.(2119-2121)gCc>gTc	p.A707V	ARHGEF10_uc003wpq.1_Missense_Mutation_p.A731V|ARHGEF10_uc003wps.3_Missense_Mutation_p.A669V|ARHGEF10_uc003wpv.3_Missense_Mutation_p.A440V|ARHGEF10_uc010lre.3_Missense_Mutation_p.A387V	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	732					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GAGAGCCTGGCCGTGGTTGCT	0.622000														91			29		0	0	0.009535	0	0
WFDC12	128488	broad.mit.edu	37	20	43752754	43752754	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr20:43752754C>T	uc002xnf.1	-	1	250	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_080869	NP_543145	Q8WWY7	WFD12_HUMAN	Homo sapiens WAP four-disulfide core domain 12 (WFDC12), mRNA.	78					defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity	p.L77Q(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				TTACCTTCTTCCAGTTCCTTC	0.542000														13			7		0	0	0.001984	0	0
LMCD1	29995	broad.mit.edu	37	3	8579092	8579092	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:8579092A>G	uc003bqq.3	+	2	467	c.353A>G	c.(352-354)tAc>tGc	p.Y118C	LMCD1_uc011atd.2_Missense_Mutation_p.Y45C|LMCD1_uc011ate.2_Intron|LMCD1_uc011atf.1_Missense_Mutation_p.Y45C	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	118	PET.				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)		ACCATCACCTACGAGTGGGCT	0.502000														51			31		0	0	0.013726	0	0
X97876	0	broad.mit.edu	37	9	66500833	66500833	+	RNA	SNP	A	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:66500833A>C	uc004aed.1	+	2		c.926A>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		CCATGAAACCACCTGGTGCCC	0.632000														23			3		0	0	0.000602	0	0
NME9	347736	broad.mit.edu	37	3	138022439	138022439	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:138022439C>T	uc003esg.3	-	9	866	c.838G>A	c.(838-840)Gga>Aga	p.G280R	NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_Missense_Mutation_p.G195R|NME9_uc003ese.1_Missense_Mutation_p.G219R	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	280	NDK.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TCCCGGCTTCCATGGACGGCA	0.448000														115			67		0	0	0.014410	0	0
FAM86C1	55199	broad.mit.edu	37	8	8095880	8095880	+	RNA	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:8095880C>T	uc011kwt.2	+	7		c.1075C>T			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Intron			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						GCCACATGGCCCCAGGCCCAA	0.617000														26			6		0	0	0.003080	0	0
KCNA6	3742	broad.mit.edu	37	12	4919931	4919931	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:4919931G>A	uc001qng.3	+	0	1590	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	KCNA6_uc021qtr.1_Missense_Mutation_p.E242K	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	242						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CACCCCTGGGGAAATGGGGAC	0.557000										HNSCC(72;0.22)				75			53		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179638750	179638750	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:179638750T>G	uc021vsy.1	-	30	7370	c.7145A>C	c.(7144-7146)gAa>gCa	p.E2382A	TTN_uc021vsz.1_Missense_Mutation_p.E2336A|TTN_uc021vta.1_Missense_Mutation_p.E2336A|TTN_uc021vtb.1_Missense_Mutation_p.E2336A|TTN_uc002unb.2_Missense_Mutation_p.E2382A|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2382	Ig-like 13.						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)			TTCCACACTTTCCAAGGAGAC	0.463000														12			10		0	0	0.006214	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281564	145281564	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:145281564C>T	uc001emn.4	+	3	864	c.494C>T	c.(493-495)tCc>tTc	p.S165F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.S165F|NOTCH2NL_uc001emo.2_Missense_Mutation_p.S165F|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	165	EGF-like 5; calcium-binding (Potential).				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.S165F(6)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGCCTGGTTCCTACCAGTGC	0.577000														592			63		0	0	0.014410	0	0
GALC	2581	broad.mit.edu	37	14	88454820	88454820	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:88454820C>A	uc001xvt.3	-	1	350	c.243G>T	c.(241-243)caG>caT	p.Q81H	GALC_uc010tvy.2_Intron|GALC_uc010tvx.2_Missense_Mutation_p.Q55H|GALC_uc010tvz.1_Missense_Mutation_p.Q25H|GALC_uc001xvu.2_Missense_Mutation_p.Q81H	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	81					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						AATCCAATATCTGAGAACGAT	0.303000														47			30		1.56738e-10	1.67743e-10	0.004289	1	0
CYP11B2	1585	broad.mit.edu	37	8	143993405	143993405	+	Silent	SNP	C	T	T	rs141179680		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:143993405C>T	uc003yxk.1	-	8	1506	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	501					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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)				Candesartan(DB00796)|Metyrapone(DB01011)	ACTAGTTAATCGCTCTGAAAG	0.557000									Familial Hyperaldosteronism type I					100			37		0	0	0.008740	0	0
OR6N1	128372	broad.mit.edu	37	1	158736021	158736021	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:158736021C>T	uc010piq.2	-	0	452	c.452G>A	c.(451-453)gGa>gAa	p.G151E		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGCCAAGCCTCCCAACCAACA	0.532000														5			6		0	0	0.001984	0	0
FAM13A	10144	broad.mit.edu	37	4	89658686	89658687	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:89658686_89658687CC>TT	uc003hse.1	-	20	2790_2791	c.2582_2583GG>AA	c.(2581-2583)cgg>cAA	p.R861Q	FAM13A_uc011cdp.1_5'UTR|FAM13A_uc003hsa.1_Intron|FAM13A_uc003hsb.1_Missense_Mutation_p.R535Q|FAM13A_uc003hsd.1_Intron|FAM13A_uc003hsc.1_Missense_Mutation_p.R521Q|FAM13A_uc011cdq.1_Missense_Mutation_p.R507Q|FAM13A_uc003hsf.1_Missense_Mutation_p.R447Q|FAM13A_uc003hsg.1_Intron	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	861					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						AAGGGCTTCTCCGCTTGCTGGA	0.540000														23			13		0	0	0.004672	0	0
EPHA1	2041	broad.mit.edu	37	7	143098468	143098468	+	Missense_Mutation	SNP	C	T	T	rs111858878		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:143098468C>T	uc003wcz.3	-	2	468	c.381G>A	c.(379-381)atG>atA	p.M127I		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	127						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGTCACTCTCCATGTACAGAA	0.617000														95			74		0	0	0.014410	0	0
LRRC16B	90668	broad.mit.edu	37	14	24534842	24534842	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:24534842G>A	uc001wlj.2	+	33	3565	c.3408G>A	c.(3406-3408)ggG>ggA	p.G1136G	LRRC16B_uc001wlk.2_Intron	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	1136										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)		GCACTGAGGGGTCAGAGCCAG	0.617000														68			43		0	0	0.014410	0	0
VAV2	7410	broad.mit.edu	37	9	136672436	136672436	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:136672436G>A	uc004ces.3	-	7	725	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S	VAV2_uc004cer.3_Missense_Mutation_p.P222S	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	227	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		AGCCGCAGGGGGCTCATGTAG	0.652000														22			29		0	0	0.003755	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403731	28403731	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:28403731G>A	uc003nli.4	-	1	494	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Intron|ZSCAN23_uc011dli.2_Nonsense_Mutation_p.Q105*	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	105	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						ACCCAGGCCTGGAGCTCCTCA	0.592000														19			5		0	0	0.001168	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255890	140255890	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:140255890C>T	uc003lic.2	+	0	960	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.S278F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	293	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S278F(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAATTTCCTATGGGATC	0.368000														88			75		0	0	0.014410	0	0
PASK	23178	broad.mit.edu	37	2	242077394	242077394	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:242077394G>A	uc002wao.2	-	5	983	c.850C>T	c.(850-852)Cct>Tct	p.P284S	PASK_uc010zol.2_Missense_Mutation_p.P98S|PASK_uc010zom.2_Missense_Mutation_p.P249S|PASK_uc010fzl.2_Missense_Mutation_p.P284S|PASK_uc010zon.2_Missense_Mutation_p.P65S|PASK_uc021vzf.1_Missense_Mutation_p.P284S|PASK_uc002waq.3_Missense_Mutation_p.P284S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	284					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCAGAAGGAGGGAGCTGCACA	0.562000														25			29		0	0	0.009535	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2983757	2983757	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:2983757C>T	uc002csd.3	+	5	1653	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	FLYWCH1_uc002csb.3_Silent_p.F429F|FLYWCH1_uc002csc.3_Silent_p.F429F|FLYWCH1_uc010bsv.3_Silent_p.F105F	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	430						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GGGGCAGCTTCCTGGTGTACG	0.682000														11			9		0	0	0.008291	0	0
CSMD2	114784	broad.mit.edu	37	1	34011788	34011788	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:34011788C>T	uc001bxm.1	-	56	9126	c.8949G>A	c.(8947-8949)ggG>ggA	p.G2983G	CSMD2_uc001bxn.1_Silent_p.G2839G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2956	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGCCGGGATCCCAGGGTCAC	0.567000														14			7		0	0	0.004482	0	0
CELF4	56853	broad.mit.edu	37	18	34853081	34853081	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:34853081C>T	uc002lae.2	-	6	1243	c.847G>A	c.(847-849)Ggc>Agc	p.G283S	CELF4_uc021uix.1_Missense_Mutation_p.G281S|CELF4_uc021uiy.1_Missense_Mutation_p.G282S|CELF4_uc002lag.2_Missense_Mutation_p.G273S|CELF4_uc002laf.2_Missense_Mutation_p.G278S|CELF4_uc002lai.2_Missense_Mutation_p.G268S|CELF4_uc002lah.2_Missense_Mutation_p.G8S|CELF4_uc002laj.1_Missense_Mutation_p.R118Q	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	283	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TTCAGGTAGCCGCCCTGCGCG	0.642000														32			50		0	0	0.014410	0	0
PDE4C	5143	broad.mit.edu	37	19	18327582	18327582	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:18327582C>T	uc010xqc.2	-	11	1934	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q	PDE4C_uc002nik.4_Missense_Mutation_p.R485Q|PDE4C_uc002nil.4_Missense_Mutation_p.R485Q|PDE4C_uc002nig.4_Missense_Mutation_p.R200Q|PDE4C_uc002nih.4_Missense_Mutation_p.R255Q|PDE4C_uc010ebk.3_Missense_Mutation_p.R379Q|PDE4C_uc002nii.4_Missense_Mutation_p.R453Q|PDE4C_uc002nif.4_Missense_Mutation_p.R254Q|PDE4C_uc010ebl.3_Missense_Mutation_p.R199Q	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	485					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CAGACTCAGTCGCTGCTTGGC	0.612000														49			55		0	0	0.014410	0	0
AIRE	326	broad.mit.edu	37	21	45712900	45712900	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr21:45712900G>A	uc002zei.2	+	9	1247	c.1120G>A	c.(1120-1122)Gga>Aga	p.G374R	AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Missense_Mutation_p.G177R|AIRE_uc010gpr.2_Missense_Mutation_p.G177R	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	374					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TAGGTCGGCGGGAGAGGAGGT	0.682000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					38			29		0	0	0.004289	0	0
GARS	2617	broad.mit.edu	37	7	30668228	30668228	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:30668228C>T	uc003tbm.3	+	13	2109	c.1752C>T	c.(1750-1752)atC>atT	p.I584I		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	584					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TGGGTAGGATCATGTATACGG	0.368000														33			16		0	0	0.004990	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047399	75047399	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:75047399C>T	uc002ayr.1	+	6	1585	c.1521C>T	c.(1519-1521)gtC>gtT	p.V507V		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	507					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GTGAACATGTCCAGGCGCGGC	0.622000														30			25		0	0	0.006320	0	0
NUP155	9631	broad.mit.edu	37	5	37328482	37328482	+	Silent	SNP	G	A	A	rs73749020		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:37328482G>A	uc003jku.1	-	16	1972	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	NUP155_uc003jkt.1_Silent_p.S559S|NUP155_uc010iuz.1_Silent_p.S618S	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	618	Pro-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCCCAAAAAGGATGGATTTG	0.353000														9			8		0	0	0.006214	0	0
DDX39B	7919	broad.mit.edu	37	6	31500599	31500599	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:31500599G>C	uc003ntt.3	-	6	1483	c.825C>G	c.(823-825)aaC>aaG	p.N275K	DDX39B_uc003ntr.3_Missense_Mutation_p.N82K|DDX39B_uc003ntu.3_Missense_Mutation_p.N275K|DDX39B_uc011dnn.2_Missense_Mutation_p.N197K|DDX39B_uc003ntv.3_Missense_Mutation_p.N275K	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	275	Helicase C-terminal.				RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGAGCTTCCGGTTCTTCTCGT	0.522000														40			63		0	0	0.014410	0	0
MYPN	84665	broad.mit.edu	37	10	69882042	69882042	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:69882042G>A	uc001jnm.4	+	2	1032	c.847G>A	c.(847-849)Gga>Aga	p.G283R	MYPN_uc001jnl.1_Missense_Mutation_p.G283R|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Missense_Mutation_p.G283R|MYPN_uc001jnp.1_Missense_Mutation_p.G283R|MYPN_uc009xps.3_Missense_Mutation_p.G283R|MYPN_uc009xpt.3_Missense_Mutation_p.G283R|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	283	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGTTCCAGAAGGAACTCGAGT	0.468000														22			20		0	0	0.010504	0	0
ATP1B2	482	broad.mit.edu	37	17	7557429	7557429	+	Missense_Mutation	SNP	G	A	A	rs139562417		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:7557429G>A	uc002gif.1	+	3	989	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 2 polypeptide (ATP1B2), mRNA.	136					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.E136K(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		ACGCTATTACGAACAGCCAGA	0.552000														150			94		0	0	0.014410	0	0
CEL	1056	broad.mit.edu	37	9	135940078	135940078	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:135940078C>T	uc010naa.1	+	2	294	c.278C>T	c.(277-279)aCc>aTc	p.T93I		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	90	Heparin-binding.				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCCACCATCACCCAGGACAGC	0.617000														154			46		0	0	0.014410	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240746	1240746	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:1240746A>G	uc003jby.2	+	6	1069	c.946A>G	c.(946-948)Act>Gct	p.T316A		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	316					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTTCAAAGCAACTAATGACTA	0.612000														34			23		0	0	0.004656	0	0
PCSK5	5125	broad.mit.edu	37	9	78965799	78965799	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:78965799G>A	uc004akc.2	+	34	5479	c.4941G>A	c.(4939-4941)ggG>ggA	p.G1647G		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	812					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCATGGGAGGGATCTGCACCT	0.488000														46			14		0	0	0.004990	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431239	117431239	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:117431239C>T	uc003vjf.3	-	3	2103	c.2011G>A	c.(2011-2013)Gtt>Att	p.V671I		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	671										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGGCACTAACGGGGTTTATG	0.498000														31			25		0	0	0.004656	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	A	A	rs11554290		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:115256529T>A	uc009wgu.3	-	2	436	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				68			56		0	0	0.014410	0	0
C6orf165	154313	broad.mit.edu	37	6	88123580	88123580	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:88123580A>G	uc003plv.3	+	3	368	c.245A>G	c.(244-246)aAg>aGg	p.K82R	C6orf165_uc003plu.2_Missense_Mutation_p.K82R|C6orf165_uc003plw.3_5'UTR|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	82								p.K82N(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GACACTATTAAGATGCAAGTC	0.328000														9			15		0	0	0.006122	0	0
PGAP2	27315	broad.mit.edu	37	11	3832517	3832517	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:3832517C>T	uc010qxw.2	+	2	224	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	PGAP2_uc001lyl.3_5'UTR|PGAP2_uc010qxy.2_Missense_Mutation_p.R67W|PGAP2_uc001lyn.4_Intron|PGAP2_uc010qya.2_Non-coding_Transcript|PGAP2_uc010qyb.2_Intron|PGAP2_uc001lys.3_Missense_Mutation_p.R10W|PGAP2_uc001lyt.3_Intron|PGAP2_uc021qcm.1_Missense_Mutation_p.R10W	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.	10					GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						ACCACTGGATCGGGATGGGAC	0.607000														27			29		0	0	0.010818	0	0
SRSF11	9295	broad.mit.edu	37	1	70715641	70715641	+	Silent	SNP	A	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:70715641A>G	uc001des.3	+	10	1153	c.1029A>G	c.(1027-1029)agA>agG	p.R343R	SRSF11_uc001det.3_Silent_p.R343R|SRSF11_uc001deu.2_Silent_p.R350R|SRSF11_uc001dev.3_Silent_p.R153R|SRSF11_uc001dew.3_Silent_p.R283R	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	343	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.|Poly-Arg.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding	p.R343T(1)		large_intestine(3)|ovary(2)|skin(1)	6						CTAGAGAGAGACGACGACGAA	0.408000														20			3		0	0	0.004672	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16816459	16816459	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:16816459G>A	uc010rcu.1	-	17	2531	c.2516C>T	c.(2515-2517)cCg>cTg	p.P839L	PLEKHA7_uc001mmo.3_Missense_Mutation_p.P839L|PLEKHA7_uc010rcv.2_Missense_Mutation_p.P413L|PLEKHA7_uc001mmn.3_Missense_Mutation_p.P547L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	839					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.N838fs*61(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CATCTCACCCGGATTTTTTAC	0.512000														40			41		0	0	0.009718	0	0
MUC17	140453	broad.mit.edu	37	7	100684532	100684532	+	Missense_Mutation	SNP	G	A	A	rs143002700	byFrequency	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:100684532G>A	uc003uxp.1	+	2	9888	c.9835G>A	c.(9835-9837)Gga>Aga	p.G3279R	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3279	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTAGTGAAGGAAGCACTCC	0.512000														185			88		0	0	0.014410	0	0
MST1P9	11223	broad.mit.edu	37	1	17087593	17087593	+	Silent	SNP	C	T	T	rs12145944	by1000genomes	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:17087593C>T	uc010ock.2	-	1	72	c.72G>A	c.(70-72)caG>caA	p.Q24Q	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ATGGCGAGCGCTGCCCTGCAG	0.577000														52			4		0	0	0.009096	0	0
RASGRP2	10235	broad.mit.edu	37	11	64503020	64503020	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:64503020C>T	uc009ypu.3	-	10	1517	c.1290G>A	c.(1288-1290)atG>atA	p.M430I	RASGRP2_uc001oat.3_Missense_Mutation_p.M332I|RASGRP2_uc001oau.3_Missense_Mutation_p.M285I|RASGRP2_uc009ypv.3_Missense_Mutation_p.M430I|RASGRP2_uc009ypw.3_Missense_Mutation_p.M430I	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	430	EF-hand 1.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCACCTCCACCATCTTCTCGA	0.647000														26			19		0	0	0.006122	0	0
BC029534	0	broad.mit.edu	37	6	25261617	25261617	+	RNA	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:25261617G>A	uc003nex.4	-	0		c.19C>T								Homo sapiens cDNA clone IMAGE:5297808.																		TGTTCAAAAAGGAATGCCCCA	0.398000														9			3		0	0	0.004672	0	0
GPC3	2719	broad.mit.edu	37	X	132670265	132670265	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:132670265G>A	uc010nrn.2	-	8	1896	c.1699C>T	c.(1699-1701)Ccg>Tcg	p.P567S	GPC3_uc004exe.2_Missense_Mutation_p.P544S|GPC3_uc011mvh.2_Missense_Mutation_p.P528S|GPC3_uc010nro.2_Missense_Mutation_p.P490S	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	544						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TTGTCCTTCGGAGTTGCCTGC	0.493000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					24			20		0	0	0.012319	0	0
DCAF13	25879	broad.mit.edu	37	8	104427557	104427557	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:104427557C>T	uc003yln.3	+	0	616	c.339C>T	c.(337-339)tcC>tcT	p.S113S	SLC25A32_uc003yll.3_5'Flank|SLC25A32_uc011lhr.2_5'Flank|DCAF13_uc003ylm.1_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCCGCCGCTCCGCGAGTCACG	0.637000														88			34		0	0	0.003755	0	0
RFFL	117584	broad.mit.edu	37	17	33353573	33353573	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:33353573G>A	uc010cti.1	-	1	242	c.18C>T	c.(16-18)atC>atT	p.I6I	RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_5'UTR|RFFL_uc002hin.1_5'UTR|RFFL_uc002hip.2_5'UTR|RFFL_uc002hio.2_5'UTR	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	Homo sapiens ring finger and FYVE-like domain containing 1 (RFFL), transcript variant 2, mRNA.	0					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTGCCCACATGATAAAATCTG	0.552000														1			18		0	0	0.008871	0	0
AVPR2	554	broad.mit.edu	37	X	153170623	153170623	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:153170623C>T	uc004fjh.4	+	1	197	c.25_splice	c.e1+1	p.A9_splice	AVPR2_uc004fjg.4_Splice_Site|AVPR2_uc004fji.3_Splice_Site_p.A9_splice	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	9					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of adenylate cyclase activity|excretion|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	Golgi apparatus|endoplasmic reticulum|endosome|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCACCACTTCCGGTAAGGCTT	0.597000														71			41		0	0	0.009718	0	0
XIRP2	129446	broad.mit.edu	37	2	168103940	168103940	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:168103940G>A	uc002udx.3	+	8	6127	c.6038G>A	c.(6037-6039)aGa>aAa	p.R2013K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1838K|XIRP2_uc010fpq.3_Missense_Mutation_p.R1791K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1838					actin cytoskeleton organization	cell junction	actin binding	p.R2013I(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTAGAAGAAAGAACTGAGGTT	0.448000														2			4		0	0	0.009096	0	0
SVOPL	136306	broad.mit.edu	37	7	138312175	138312175	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:138312175G>A	uc011kqh.2	-	10	1101	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	SVOPL_uc003vue.3_Silent_p.F215F	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	367						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GTCTTCCCAGGAAATTGATGC	0.403000														6			3		0	0	0.000602	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323983	79323983	+	Silent	SNP	A	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:79323983A>G	uc010mpk.3	-	7	3331	c.3207T>C	c.(3205-3207)gaT>gaC	p.D1069D	PRUNE2_uc022bih.1_Silent_p.D891D	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1069					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCCCGACGTCATCCTCCATGG	0.453000														23			27		0	0	0.004656	0	0
BTK	695	broad.mit.edu	37	X	100608220	100608220	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:100608220C>T	uc010nno.2	-	17	2205	c.1972G>A	c.(1972-1974)Gag>Aag	p.E658K	BTK_uc004ehf.2_Missense_Mutation_p.E124K|BTK_uc010nnh.2_Non-coding_Transcript|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Non-coding_Transcript|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Non-coding_Transcript|BTK_uc010nnl.2_Missense_Mutation_p.E100K|BTK_uc010nnm.2_Missense_Mutation_p.E194K|BTK_uc004ehg.2_Missense_Mutation_p.E624K|BTK_uc010nnn.2_Missense_Mutation_p.E448K	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	624					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATACCTTCTCTGAAGCCAGA	0.438000									Agammaglobulinemia, X-linked					95			75		0	0	0.014410	0	0
HRNR	388697	broad.mit.edu	37	1	152188374	152188374	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:152188374C>T	uc001ezt.1	-	2	5807	c.5731G>A	c.(5731-5733)Gaa>Aaa	p.E1911K		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1911					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTTGTTCACCCCTAGAT	0.557000														843			44		0	0	0.006230	0	0
PRSS58	136541	broad.mit.edu	37	7	141952372	141952372	+	Missense_Mutation	SNP	G	A	A	rs146814209		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:141952372G>A	uc003vxb.3	-	3	816	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	PRSS58_uc003vxc.4_Missense_Mutation_p.R166C	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	166	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TAGGCATCGCGACACTGAGGC	0.433000														13			15		0	0	0.004007	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698526	103698526	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr13:103698526G>A	uc001vpy.4	-	5	1601	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	335					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTATAAAACGATGACTCTGG	0.373000														7			6		0	0	0.001984	0	0
abParts	0	broad.mit.edu	37	14	106926361	106926361	+	RNA	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:106926361C>T	uc021ser.1	-	325		c.11507G>A								Parts of antibodies, mostly variable regions.																		AGACCCTTCCCCGGAGCTTGA	0.547000														55			39		0	0	0.005524	0	0
PLCG2	5336	broad.mit.edu	37	16	81969973	81969973	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:81969973C>T	uc002fgt.3	+	26	3220	c.3042C>T	c.(3040-3042)ttC>ttT	p.F1014F		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1014	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CACTCAATTTCCAGACGGCAG	0.582000														12			7		0	0	0.001984	0	0
CXCR3	2833	broad.mit.edu	37	X	70836447	70836447	+	Missense_Mutation	SNP	C	T	T	rs139226823		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:70836447C>T	uc022bys.1	-	0	1016	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Missense_Mutation_p.R292Q|CXCR3_uc011mpx.2_Missense_Mutation_p.R339Q	NM_001142797	NP_001136269	P49682	CXCR3_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA.	292					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CCTGCTTTCTCGGCCACAGTT	0.617000														38			26		0	0	0.009535	0	0
LILRP2	79166	broad.mit.edu	37	19	55221674	55221674	+	RNA	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:55221674C>T	uc002qgs.1	+	0		c.2074C>T			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		ACCCACGCTCCGCACAGGCCC	0.667000														13			5		0	0	0.000602	0	0
FER1L6	654463	broad.mit.edu	37	8	125107223	125107223	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:125107223C>T	uc003yqw.3	+	34	4845	c.4639C>T	c.(4639-4641)Cct>Tct	p.P1547S	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1547						integral to membrane		p.P1547S(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TAGGCTGGTTCCTGAACACAT	0.483000														17			32		0	0	0.004289	0	0
LGALS12	85329	broad.mit.edu	37	11	63283841	63283841	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:63283841C>T	uc001nxc.2	+	8	1331	c.990C>T	c.(988-990)gtC>gtT	p.V330V	LGALS12_uc001nxa.2_Silent_p.V329V|LGALS12_uc001nxb.2_Silent_p.V320V|LGALS12_uc001nxd.2_Silent_p.V268V|LGALS12_uc001nxe.2_Silent_p.V259V|LGALS12_uc009yot.2_Silent_p.V289V	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	329	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GTGGAAGTGTCCAGCTCTACT	0.622000														20			22		0	0	0.002780	0	0
BCORL1	63035	broad.mit.edu	37	X	129146564	129146564	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:129146564C>T	uc022cdu.1	+	1	141	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	BCORL1_uc010nrd.1_5'Flank	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	33					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AAGAGCACCTCTTTCTGATGA	0.527000														96			59		0	0	0.014410	0	0
CYP2J2	1573	broad.mit.edu	37	1	60366767	60366767	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:60366767C>T	uc001czq.3	-	7	1205	c.1200G>A	c.(1198-1200)atG>atA	p.M400I		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	400					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TGGTCAGGATCATGGTACCCT	0.547000														24			11		0	0	0.002450	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183232	11183232	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:11183232G>C	uc001qzo.1	-	0	775	c.703C>G	c.(703-705)Ctc>Gtc	p.L235V	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176885	NP_795366	P59538	T2R31_HUMAN	Homo sapiens taste receptor, type 2, member 31 (TAS2R31), mRNA.	235					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						CATAACAAGAGGAAAAAGATC	0.403000														119			7		0	0	0.003080	0	0
ASS1	445	broad.mit.edu	37	9	133370310	133370310	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:133370310G>A	uc010mza.3	+	13	1763	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	ASS1_uc004bzm.3_Missense_Mutation_p.E343K|ASS1_uc004bzn.3_Missense_Mutation_p.E343K	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	343					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CAAGTCCCAGGAGCGAGTGGA	0.587000														17			25		0	0	0.005443	0	0
FLNA	2316	broad.mit.edu	37	X	153595841	153595841	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:153595841G>A	uc004fkk.2	-	4	1041	c.792C>T	c.(790-792)ttC>ttT	p.F264F	FLNA_uc010nuu.1_Silent_p.F264F	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	264	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCCTTGGGGAACTGGGACA	0.627000														66			45		0	0	0.014410	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919002	12919002	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:12919002G>A	uc001aum.1	+	1	225	c.138G>A	c.(136-138)agG>agA	p.R46R		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	46										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCAGCAGGAGACACTTCC	0.592000														58			23		0	0	0.014323	0	0
ABCA12	26154	broad.mit.edu	37	2	215852497	215852497	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:215852497G>A	uc002vew.3	-	26	4070	c.3850C>T	c.(3850-3852)Ccc>Tcc	p.P1284S	ABCA12_uc002vev.3_Missense_Mutation_p.P966S|ABCA12_uc010zjn.2_Missense_Mutation_p.P211S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1284					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)		AAATACCAGGGAGCTGCCATA	0.403000														6			4		0	0	0.009096	0	0
NIPA1	123606	broad.mit.edu	37	15	23049282	23049282	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:23049282G>A	uc001yvc.3	-	4	562	c.537C>T	c.(535-537)atC>atT	p.I179I	NIPA1_uc001yvd.3_Silent_p.I9I|NIPA1_uc001yve.3_Silent_p.I104I	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.	179					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		GGGCCGGCGCGATCCAGAAGA	0.607000														9			6		0	0	0.001168	0	0
PZP	5858	broad.mit.edu	37	12	9346693	9346693	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:9346693C>T	uc001qvl.3	-	10	1263	c.1234G>A	c.(1234-1236)Gtt>Att	p.V412I	PZP_uc009zgl.3_Missense_Mutation_p.V281I	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.									p.S411L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGTTTATTAACCGAGATACTG	0.378000														29			11		0	0	0.002450	0	0
MAP4K4	9448	broad.mit.edu	37	2	102446002	102446002	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:102446002C>G	uc002tbc.3	+	5	832	c.454C>G	c.(454-456)Cgg>Ggg	p.R152G	MAP4K4_uc002tbf.3_Missense_Mutation_p.R152G|MAP4K4_uc002tbd.3_Missense_Mutation_p.R152G|MAP4K4_uc010yvy.2_Missense_Mutation_p.R152G|MAP4K4_uc002tbh.3_Missense_Mutation_p.R152G|MAP4K4_uc002tbg.3_Missense_Mutation_p.R152G|MAP4K4_uc002tbi.3_Missense_Mutation_p.R152G|MAP4K4_uc010yvz.2_Missense_Mutation_p.R132G|MAP4K4_uc010fiw.1_Intron|MAP4K4_uc002tbj.1_Missense_Mutation_p.R48G	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	152	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTGATTCACCGGGATATCAA	0.443000														3			4		0	0	0.000602	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136298631	136298631	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:136298631G>A	uc004cdv.4	+	9	1670	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R409Q|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R378Q|ADAMTS13_uc004cdw.4_Missense_Mutation_p.R409Q|ADAMTS13_uc004cdx.4_Missense_Mutation_p.R378Q|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Missense_Mutation_p.R79Q|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Intron	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	409	TSP type-1 1.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACCAGGAGGCGGCAGTGCAAC	0.627000														28			4		0	0	0.000602	0	0
TYW1B	441250	broad.mit.edu	37	7	72209570	72209570	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:72209570G>A	uc011kej.2	-	7	1132	c.973C>T	c.(973-975)Ccg>Tcg	p.P325S	TYW1B_uc011keh.1_Missense_Mutation_p.P163S|TYW1B_uc011kei.2_5'UTR|TYW1B_uc011kek.1_Non-coding_Transcript	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	325					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCTCCCTCGGAGCATCGACT	0.418000														16			9		0	0	0.004482	0	0
EPHB2	2048	broad.mit.edu	37	1	23208919	23208919	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:23208919C>T	uc009vqj.1	+	5	1516	c.1371C>T	c.(1369-1371)tcC>tcT	p.S457S	EPHB2_uc001bge.3_Silent_p.S457S|EPHB2_uc001bgf.3_Silent_p.S457S|EPHB2_uc010odu.2_Silent_p.S457S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	457	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)		TGTCGTGGTCCCAGCCGGACC	0.592000														36			21		0	0	0.014323	0	0
MUC16	94025	broad.mit.edu	37	19	9047571	9047571	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:9047571G>A	uc002mkp.3	-	4	34264	c.34060C>T	c.(34060-34062)Cct>Tct	p.P11354S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11356	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						GTGACTGCAGGATGAGTAACC	0.512000														59			54		0	0	0.014410	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555242	44555242	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:44555242C>T	uc010xdb.2	-	0	1208	c.972G>A	c.(970-972)tcG>tcA	p.S324S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	324	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.S324S(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCCTGGAGCCCGAGTACACCG	0.667000														842			29		0	0	0.010818	0	0
S100A7A	338324	broad.mit.edu	37	1	153390687	153390687	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:153390687C>T	uc001fbt.1	+	1	186	c.129C>T	c.(127-129)ttC>ttT	p.F43F		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	43	EF-hand 1.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCCAATTTCCTCAGTGCCT	0.493000														40			24		0	0	0.003330	0	0
KCNA5	3741	broad.mit.edu	37	12	5154998	5154998	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:5154998C>T	uc001qni.3	+	0	1914	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	562						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						AGCAGGGGATCCTTCTGCAAG	0.642000														29			16		0	0	0.007413	0	0
HDC	3067	broad.mit.edu	37	15	50534909	50534909	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:50534909C>T	uc001zxz.3	-	11	1879	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	HDC_uc001zxy.3_Missense_Mutation_p.G256R|HDC_uc010uff.2_Missense_Mutation_p.G480R	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	513					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GGATCATCTCCTGCCCCACTG	0.582000														21			12		0	0	0.001855	0	0
NLRC5	84166	broad.mit.edu	37	16	57116378	57116378	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:57116378C>T	uc021tiu.1	+	47	5666	c.5539C>T	c.(5539-5541)Cag>Tag	p.Q1847*	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Nonsense_Mutation_p.Q389*|NLRC5_uc002ekr.1_Nonsense_Mutation_p.Q734*	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1847					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCTGAAGAGCCAGGAGCCCAG	0.567000														54			20		0	0	0.002780	0	0
PRR23B	389151	broad.mit.edu	37	3	138739354	138739354	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:138739354C>T	uc003esy.1	-	0	415	c.150G>A	c.(148-150)ggG>ggA	p.G50G		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	50										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGCCGGGTCCCCCGCCGGGT	0.751000														4			3		0	0	0.004672	0	0
OSMR	9180	broad.mit.edu	37	5	38884043	38884043	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:38884043C>T	uc003jln.2	+	4	935	c.533C>T	c.(532-534)tCc>tTc	p.S178F	OSMR_uc003jlm.2_Missense_Mutation_p.S178F	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	178					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AATAATGTATCCTGTTATTTG	0.373000														16			11		0	0	0.008291	0	0
VPS13A	23230	broad.mit.edu	37	9	79984267	79984267	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:79984267C>T	uc004akr.3	+	62	8866	c.8606C>T	c.(8605-8607)cCa>cTa	p.P2869L	VPS13A_uc004akp.4_Missense_Mutation_p.P2869L|VPS13A_uc004akq.4_Missense_Mutation_p.P2869L|VPS13A_uc004aks.3_Missense_Mutation_p.P2830L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2869					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTGGGAAATCCATTTGGCTTA	0.294000														20			7		0	0	0.003080	0	0
ENPEP	2028	broad.mit.edu	37	4	111470779	111470779	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:111470779G>A	uc003iab.4	+	15	2663	c.2321G>A	c.(2320-2322)gGg>gAg	p.G774E		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	774					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TGGCTAAATGGGACTGTAAGG	0.428000														3			7		0	0	0.001984	0	0
OASL	8638	broad.mit.edu	37	12	121469308	121469308	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:121469308G>A	uc001tzj.1	-	2	600	c.594C>T	c.(592-594)ttC>ttT	p.F198F	OASL_uc001tzk.1_Silent_p.F198F	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	198					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGTTTCACGAAATTTCTCT	0.587000														185			148		0	0	0.014410	0	0
DPPA2	151871	broad.mit.edu	37	3	109023485	109023485	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:109023485G>A	uc003dxo.3	-	6	938	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	231						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGCCGAGAGAAGTCTGCCA	0.502000														20			19		0	0	0.007413	0	0
CHI3L1	1116	broad.mit.edu	37	1	203149625	203149625	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:203149625C>T	uc001gzi.2	-	7	1038	c.867G>A	c.(865-867)aaG>aaA	p.K289K	CHI3L1_uc001gzk.1_Intron|CHI3L1_uc001gzj.2_Intron|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	289					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TCCCTGCCTCCTTGGTGAACC	0.597000														32			20		0	0	0.012319	0	0
ADAM23	8745	broad.mit.edu	37	2	207459597	207459597	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:207459597G>A	uc002vbq.3	+	22	2438	c.2215G>A	c.(2215-2217)Gat>Aat	p.D739N	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	739	EGF-like.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CTGTCCACTCGATTCCAAGGG	0.483000														15			14		0	0	0.001855	0	0
X97876	0	broad.mit.edu	37	9	66500839	66500839	+	RNA	SNP	T	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:66500839T>C	uc004aed.1	+	2		c.932T>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		AACCACCTGGTGCCCAGGGCT	0.637000														23			3		0	0	0.001984	0	0
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	T	T	rs149004156	by1000genomes	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:320606G>T	uc001lpa.2	-	0	309	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	BC040735_uc001loz.3_Intron	NM_021034	NP_066362	Q01628	IFM3_HUMAN	Homo sapiens interferon induced transmembrane protein 3 (IFITM3), mRNA.	70	Interaction with SPP1.				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P70T(6)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632000														156			6		0.00307968	0.00328004	0.003080	1	0
LGALS9C	654346	broad.mit.edu	37	17	18392260	18392260	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:18392260C>T	uc002gtw.3	+	4	520	c.450C>T	c.(448-450)ccC>ccT	p.P150P	LGALS9C_uc010vyb.2_Silent_p.P62P	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9C (LGALS9C), mRNA.	150							sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						AACAGAATCCCCGCGCAGTCC	0.582000														37			11		0	0	0.010729	0	0
PSG4	5672	broad.mit.edu	37	19	43414971	43414971	+	Missense_Mutation	SNP	T	C	C	rs144744998		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:43414971T>C	uc002ovj.1	-	2	566	c.467A>G	c.(466-468)aAc>aGc	p.N156S	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.N156S	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	157	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.N156S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCCCTGGGGTTTAAGTTGCT	0.527000														64			51		0	0	0.014410	0	0
HTR3E	285242	broad.mit.edu	37	3	183824092	183824092	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:183824092G>A	uc010hxr.3	+	5	1374	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	HTR3E_uc010hxq.3_Missense_Mutation_p.E368K|HTR3E_uc003fml.4_Missense_Mutation_p.E353K|HTR3E_uc003fmm.3_Missense_Mutation_p.E383K|HTR3E_uc003fmn.3_Missense_Mutation_p.E368K	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	368						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCCCAGAAGGAAAATAAGGG	0.667000														8			11		0	0	0.013537	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811554	5811554	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:5811554C>T	uc010ndi.3	-	6	2330	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	NLGN4X_uc004crp.3_Silent_p.T605T|NLGN4X_uc010ndh.3_Silent_p.T585T|NLGN4X_uc004crq.3_Silent_p.T585T|NLGN4X_uc004crr.3_Silent_p.T585T|NLGN4X_uc010ndj.3_Silent_p.T585T	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	585					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.T585T(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAGCCACTTTCGTTGCCCGGT	0.463000														13			35		0	0	0.007835	0	0
RANBP2	5903	broad.mit.edu	37	2	109382668	109382668	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:109382668C>T	uc002tem.4	+	19	5799	c.5673C>T	c.(5671-5673)atC>atT	p.I1891I		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1891					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATTTTCCATCCCTGTGTCTG	0.378000														53			35		0	0	0.004878	0	0
SS18	6760	broad.mit.edu	37	18	23619270	23619270	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:23619270T>C	uc002kvm.3	-	5	836	c.758A>G	c.(757-759)tAt>tGt	p.Y253C	SS18_uc002kvn.3_Missense_Mutation_p.Y253C|SS18_uc010xbf.2_Missense_Mutation_p.Y171C|SS18_uc010xbg.2_Missense_Mutation_p.Y201C|SS18_uc010xbh.2_Missense_Mutation_p.Y201C|SS18_uc010xbi.2_Missense_Mutation_p.Y230C|SS18_uc010dlz.1_Missense_Mutation_p.Y201C	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	253	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					AGGAGGTCTATAGGGAGGAAT	0.408000			T	"""SSX1,  SSX2"""	synovial sarcoma									43			6		0	0	0.001168	0	0
CHD7	55636	broad.mit.edu	37	8	61654288	61654288	+	Silent	SNP	G	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:61654288G>C	uc003xue.3	+	1	789	c.297G>C	c.(295-297)gcG>gcC	p.A99A	CHD7_uc022aux.1_Silent_p.A99A	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	99					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACGGACTCGCGTCTCCGCACT	0.527000														12			29		0	0	0.009535	0	0
ACE	1636	broad.mit.edu	37	17	61560861	61560861	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:61560861G>A	uc002jau.2	+	9	1562	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	ACE_uc010wpi.2_Silent_p.T461T|ACE_uc010ddu.2_Missense_Mutation_p.E327K|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	510	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TACCCGAAACGAAACCCACTT	0.478000														15			107		0	0	0.014410	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024764	45024764	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:45024764G>A	uc010ejn.1	-	4	790	c.774C>T	c.(772-774)gtC>gtT	p.V258V	CEACAM20_uc010ejo.1_Silent_p.V258V|CEACAM20_uc010ejp.1_Silent_p.V258V|CEACAM20_uc010ejq.1_Silent_p.V258V	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	258	Ig-like C2-type 3.					integral to membrane		p.V258V(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TTGAAGGCACGACTTGAGGCA	0.522000														191			127		0	0	0.014410	0	0
EFHB	151651	broad.mit.edu	37	3	19947215	19947215	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:19947215G>A	uc003cbl.4	-	5	1511	c.1315C>T	c.(1315-1317)Cca>Tca	p.P439S	EFHB_uc003cbm.3_Missense_Mutation_p.P309S	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	439					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AAACTTGATGGGTTATACTTT	0.398000														19			13		0	0	0.013537	0	0
DPEP1	1800	broad.mit.edu	37	16	89703657	89703657	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:89703657G>A	uc010cin.3	+	6	840	c.637G>A	c.(637-639)Gct>Act	p.A213T	DPEP1_uc002fnr.4_Missense_Mutation_p.A213T|DPEP1_uc002fns.4_Missense_Mutation_p.A213T	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	213					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CATCGACTTGGCTCACGTGTC	0.667000														30			31		0	0	0.003271	0	0
GALNT13	114805	broad.mit.edu	37	2	155115593	155115593	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:155115593G>A	uc002tyt.4	+	5	1021	c.917G>A	c.(916-918)gGa>gAa	p.G306E	GALNT13_uc002tyr.4_Missense_Mutation_p.G306E|GALNT13_uc010foc.1_Missense_Mutation_p.G125E|GALNT13_uc010fod.3_Missense_Mutation_p.G59E	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	306	Catalytic subdomain B.					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						GAAGAGATAGGAACTTACGAT	0.333000														18			9		0	0	0.006214	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71606060	71606060	+	Missense_Mutation	SNP	G	A	A	rs138893749		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:71606060G>A	uc004agu.3	+	14	1812	c.1507G>A	c.(1507-1509)Ggg>Agg	p.G503R	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.	503						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)		TTCCAGCAAAGGGTTACCTTC	0.478000														20			23		0	0	0.002780	0	0
SYT1	6857	broad.mit.edu	37	12	79837936	79837936	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:79837936C>T	uc001sys.3	+	10	1683	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	SYT1_uc001syt.3_Missense_Mutation_p.P338S|SYT1_uc001syu.3_Missense_Mutation_p.P335S|SYT1_uc001syv.3_Missense_Mutation_p.P338S	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	338	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CACACTTAACCCCTACTACAA	0.358000														21			18		0	0	0.006122	0	0
PTK6	5753	broad.mit.edu	37	20	62162165	62162165	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr20:62162165C>T	uc002yfg.3	-	5	988	c.948G>A	c.(946-948)agG>agA	p.R316R	PTK6_uc011aay.2_Silent_p.R215R|PTK6_uc011aaz.1_Silent_p.R78R	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	316	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CGAGGATGTTCCTGGCGGCCA	0.617000														17			34		0	0	0.003755	0	0
CACNA1A	773	broad.mit.edu	37	19	13427954	13427954	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:13427954G>A	uc002mwy.3	-	10	1763	c.1527C>T	c.(1525-1527)aaC>aaT	p.N509N	CACNA1A_uc010dzc.2_Silent_p.N35N|CACNA1A_uc010xnd.2_Silent_p.N509N|CACNA1A_uc021ups.1_Silent_p.N509N|CACNA1A_uc010xne.2_Silent_p.N509N|CACNA1A_uc010dze.2_Silent_p.N509N|CACNA1A_uc021upt.1_Silent_p.N510N	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	510					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACTCGGGCTGGTTGTAGTGAA	0.527000														7			5		0	0	0.001168	0	0
PPP1CA	5499	broad.mit.edu	37	11	67166506	67166506	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:67166506C>T	uc001okw.1	-	4	775	c.652G>A	c.(652-654)Gag>Aag	p.E218K	PPP1CA_uc001oku.1_Missense_Mutation_p.E229K|PPP1CA_uc001okv.1_Missense_Mutation_p.E174K|PPP1CA_uc001okx.1_Missense_Mutation_p.E306K	NM_002708	NP_002699	P62136	PP1A_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, alpha isozyme (PPP1CA), transcript variant 1, mRNA.	218					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|cytosol|nucleolus	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CGGTCGTTCTCGCCCCAGCCC	0.622000														38			28		0	0	0.008361	0	0
SNRNP200	23020	broad.mit.edu	37	2	96949059	96949059	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:96949059G>A	uc002svu.3	-	33	4927	c.4795C>T	c.(4795-4797)Ccg>Tcg	p.P1599S	SNRNP200_uc002svt.3_Missense_Mutation_p.P209S|SNRNP200_uc010yuj.2_Non-coding_Transcript|SNRNP200_uc002svv.1_Missense_Mutation_p.P126S	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1599	Helicase C-terminal 2.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCCAGGTACGGAATCAGATCC	0.567000														33			29		0	0	0.007291	0	0
MST1P2	11209	broad.mit.edu	37	1	16974666	16974666	+	RNA	SNP	C	T	T	rs28503658	by1000genomes	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:16974666C>T	uc010och.2	+	6		c.1126C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCAGATCCGGCGTTGTACAGA	0.697000														48			9		0	0	0.010729	0	0
PIGG	54872	broad.mit.edu	37	4	520987	520987	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:520987C>T	uc003gak.4	+	9	2365	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	PIGG_uc003gaj.4_Silent_p.F735F|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.F610F|PIGG_uc003gal.4_Silent_p.F654F	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	743					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GTGTCCGGTTCCCGTGGCGGC	0.652000														28			24		0	0	0.006320	0	0
GPR112	139378	broad.mit.edu	37	X	135428482	135428482	+	Missense_Mutation	SNP	G	A	A	rs143735478		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:135428482G>A	uc004ezu.1	+	5	2908	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	GPR112_uc010nsb.1_Missense_Mutation_p.E668K|GPR112_uc010nsc.1_Missense_Mutation_p.E640K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	873					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGTGACAGACGAATCAGCACA	0.403000														15			21		0	0	0.008871	0	0
KRT75	9119	broad.mit.edu	37	12	52818522	52818522	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:52818522G>A	uc001saj.2	-	8	1457	c.1435C>T	c.(1435-1437)Ctt>Ttt	p.L479F		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	479	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCACTGGAAAGAGTAGAGGTG	0.612000														36			39		0	0	0.014410	0	0
ACCSL	390110	broad.mit.edu	37	11	44072947	44072947	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:44072947C>T	uc001mxw.1	+	3	754	c.698C>T	c.(697-699)cCa>cTa	p.P233L	ACCSL_uc009ykr.2_Missense_Mutation_p.P52L	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	233							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CGACTTGACCCAGAAAATGTG	0.572000														29			15		0	0	0.002450	0	0
CRX	1406	broad.mit.edu	37	19	48339556	48339556	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:48339556G>A	uc002phq.4	+	2	361	c.157G>A	c.(157-159)Gag>Aag	p.E53K	CRX_uc010elm.1_Non-coding_Transcript	NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	53					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E52*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCAACTGGAGGAGCTGGAGGC	0.632000														44			28		0	0	0.007291	0	0
TMC5	79838	broad.mit.edu	37	16	19481053	19481053	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:19481053G>A	uc002dgc.4	+	9	2437	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	TMC5_uc010vaq.2_Missense_Mutation_p.G563E|TMC5_uc002dgb.4_Missense_Mutation_p.G563E|TMC5_uc010var.2_Missense_Mutation_p.G563E|TMC5_uc002dgd.1_Missense_Mutation_p.G317E|TMC5_uc002dge.4_Missense_Mutation_p.G317E|TMC5_uc002dgf.4_Missense_Mutation_p.G246E|TMC5_uc002dgg.4_Missense_Mutation_p.G204E	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	563						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATTTACTCCGGAGGGATCACC	0.448000														36			27		0	0	0.005443	0	0
STRA6	64220	broad.mit.edu	37	15	74486141	74486141	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:74486141C>T	uc002axj.3	-	8	1197	c.837_splice	c.e8+1	p.K279_splice	STRA6_uc002axi.3_Splice_Site_p.K49_splice|STRA6_uc010ulh.2_Splice_Site_p.K278_splice|STRA6_uc002axk.3_Splice_Site_p.K240_splice|STRA6_uc002axl.3_Splice_Site_p.K172_splice|STRA6_uc010bji.3_Splice_Site_p.K240_splice|STRA6_uc021sqg.1_Splice_Site_p.K255_splice|STRA6_uc002axm.3_Splice_Site_p.K240_splice|STRA6_uc002axn.3_Splice_Site_p.K231_splice|STRA6_uc010uli.2_Splice_Site_p.K277_splice|STRA6_uc010bjj.1_Splice_Site	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	240					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GCCCCTTTACCTTGGAGCCTG	0.607000														59			63		0	0	0.014410	0	0
HYDIN	54768	broad.mit.edu	37	16	70926412	70926412	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:70926412C>T	uc002ezr.3	-	55	9417	c.9266G>A	c.(9265-9267)gGg>gAg	p.G3089E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3090										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)				TGTTGAAATCCCTACAGAGTC	0.433000														19			12		0	0	0.002450	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:41382221C>T	uc003jmm.1	-	1	621	c.519G>A	c.(517-519)gcG>gcA	p.A173A		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	173	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428000														14			10		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179452725	179452725	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:179452725C>T	uc021vsy.1	-	253	55930	c.55705G>A	c.(55705-55707)Gaa>Aaa	p.E18569K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12264K|TTN_uc021vta.1_Missense_Mutation_p.E12197K|TTN_uc021vtb.1_Missense_Mutation_p.E12072K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19496	Fibronectin type-III 34.						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)			TCCTGGTTTTCATCCAAGCTG	0.468000														1			5		0	0	0.000602	0	0
AFM	173	broad.mit.edu	37	4	74353509	74353509	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:74353509G>A	uc003hhb.3	+	5	715	c.684G>A	c.(682-684)ttG>ttA	p.L228L		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	228	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGCACTTTTGAAATTTGGAA	0.328000														9			7		0	0	0.001984	0	0
DOCK2	1794	broad.mit.edu	37	5	169116293	169116293	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:169116293C>T	uc003maf.3	+	8	879	c.799C>T	c.(799-801)Cct>Tct	p.P267S	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	267					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.P267R(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGGGGCTTCCCTAAGGAGAT	0.522000														16			15		0	0	0.004990	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779021	31779021	+	Silent	SNP	G	A	A	rs140616297	byFrequency	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:31779021G>A	uc003nxh.3	-	1	912	c.729C>T	c.(727-729)ttC>ttT	p.F243F	HSPA1L_uc010jte.3_Silent_p.F243F|HSPA1L_uc021yuz.1_Silent_p.F243F	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	243					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACTCCTCCACGAAGTGGCTCA	0.557000														522			244		0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	3889491	3889491	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:3889491G>A	uc022aqr.1	-	3	936	c.546C>T	c.(544-546)atC>atT	p.I182I		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	182	Sushi 1.					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)		TGCAGGTCAGGATGGCGTGGC	0.542000														42			14		0	0	0.002450	0	0
TLR2	7097	broad.mit.edu	37	4	154625293	154625293	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:154625293C>T	uc003inq.3	+	2	1453	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	TLR2_uc003inr.3_Silent_p.L412L|TLR2_uc003ins.3_Silent_p.L412L|TLR2_uc021xtl.1_Silent_p.L412L	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	412					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTTGCTCACTCTGAAAAACTT	0.368000														13			6		0	0	0.003080	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376574	18376574	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:18376574G>A	uc010ebn.2	-	2	1992	c.1776C>T	c.(1774-1776)gtC>gtT	p.V592V	KIAA1683_uc002nin.2_Silent_p.V592V|KIAA1683_uc010xqe.1_Silent_p.V546V	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	592						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGCCCTGGGGACCCCAGTTC	0.552000														21			19		0	0	0.008871	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95430549	95430549	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:95430549G>A	uc001kiz.2	-	12	1081	c.883C>T	c.(883-885)Cca>Tca	p.P295S	FRA10AC1_uc001kiv.2_Non-coding_Transcript	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN	Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA.	295						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TCTGTCTCTGGTAGTGGACCC	0.323000														3			3		0	0	0.004672	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:39296167A>G	uc010cxk.2	-	0	573	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000														7			3		0	0	0.009096	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650533	232650533	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:232650533C>T	uc001hvg.3	-	0	711	c.553G>A	c.(553-555)Ggg>Agg	p.G185R		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	185					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGGGCAGCCCCGGTGTTGGGG	0.483000														42			26		0	0	0.005443	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756511	94756511	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:94756511G>A	uc001yct.3	-	1	886	c.420C>T	c.(418-420)ctC>ctT	p.L140L	SERPINA10_uc001ycu.4_Silent_p.L140L	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.	140					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.G139R(1)		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)		GGGAAGGCAGGAGCCCGGGCT	0.592000														25			16		0	0	0.003163	0	0
COL11A1	1301	broad.mit.edu	37	1	103381207	103381207	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:103381207G>A	uc001dum.3	-	49	4150	c.3832C>T	c.(3832-3834)Cct>Tct	p.P1278S	COL11A1_uc001duk.3_Missense_Mutation_p.P462S|COL11A1_uc001dul.3_Missense_Mutation_p.P1266S|COL11A1_uc001dun.3_Missense_Mutation_p.P1227S|COL11A1_uc009weh.3_Missense_Mutation_p.P1150S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1266	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTTCCCCAGGAGGCCCTGGG	0.363000														9			11		0	0	0.010729	0	0
PARVB	29780	broad.mit.edu	37	22	44395501	44395501	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:44395501C>T	uc003bem.3	+	1	289	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	0					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				gttcacttctccctggctcag	0.557000														109			67		0	0	0.014410	0	0
NRAP	4892	broad.mit.edu	37	10	115412762	115412762	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:115412762C>T	uc001lal.3	-	5	666	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	NRAP_uc001laj.3_Missense_Mutation_p.G168R|NRAP_uc001lak.3_Missense_Mutation_p.G168R	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	168						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGAAAGCTCCCCTTGCCCCTG	0.473000														27			20		0	0	0.012319	0	0
abParts	0	broad.mit.edu	37	14	106622269	106622269	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:106622269C>T	uc021ser.1	-	1605		c.31098_splice	c.e1605-1							Parts of antibodies, mostly variable regions.																		CATGTCCACTCACTCAATATC	0.448000														21			24		0	0	0.002780	0	0
HNRNPR	10236	broad.mit.edu	37	1	23645128	23645128	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:23645128G>A	uc001bgr.4	-	7	1024	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	HNRNPR_uc010odw.2_Missense_Mutation_p.R251W|HNRNPR_uc009vql.3_Missense_Mutation_p.R150W|HNRNPR_uc001bgp.4_Missense_Mutation_p.R292W|HNRNPR_uc001bgs.4_Missense_Mutation_p.R188W|HNRNPR_uc009vqk.3_Missense_Mutation_p.R191W|HNRNPR_uc010odx.2_Missense_Mutation_p.R129W	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	289	RRM 2.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAGAACCCCCGATTCTTCTTT	0.453000														29			15		0	0	0.006122	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909486	94909486	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:94909486G>A	uc001ydd.1	-	3	1054	c.994C>T	c.(994-996)Ctc>Ttc	p.L332F		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	332					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R332R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		ATGTTGGTGAGACCAATTTGG	0.438000														19			24		0	0	0.014323	0	0
YAP1	10413	broad.mit.edu	37	11	102056830	102056830	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:102056830C>T	uc001pgt.3	+	3	1158	c.770C>T	c.(769-771)tCt>tTt	p.S257F	YAP1_uc001pgu.3_Missense_Mutation_p.S257F|YAP1_uc001pgv.3_Intron|YAP1_uc021qpf.1_Intron|YAP1_uc010ruo.2_Missense_Mutation_p.S79F|YAP1_uc001pgw.2_Missense_Mutation_p.S79F|YAP1_uc010rup.1_Missense_Mutation_p.S18F	NM_001130145	NP_001181974	P46937	YAP1_HUMAN	Homo sapiens Yes-associated protein 1 (YAP1), transcript variant 1, mRNA.	257	WW 2.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		AAGACCACCTCTTGGCTAGAC	0.373000														11			18		0	0	0.008871	0	0
CUZD1	50624	broad.mit.edu	37	10	124596504	124596504	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:124596504G>A	uc001lgs.3	-	6	1611	c.660C>T	c.(658-660)acC>acT	p.T220T	CUZD1_uc001lgp.3_5'UTR|CUZD1_uc009yad.3_5'UTR|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_Intron|CUZD1_uc009yae.3_Intron|CUZD1_uc010qtz.2_Silent_p.T220T	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	220	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GGCCAGAGTTGGTGGAGGGGC	0.458000														7			6		0	0	0.001168	0	0
DLEC1	9940	broad.mit.edu	37	3	38158082	38158082	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:38158082G>A	uc003chp.1	+	27	4016	c.3995G>A	c.(3994-3996)gGt>gAt	p.G1332D	DLEC1_uc003cho.1_Missense_Mutation_p.G1332D|DLEC1_uc010hgv.1_Missense_Mutation_p.G1335D|DLEC1_uc003chr.1_Missense_Mutation_p.G403D|DLEC1_uc010hgx.1_Non-coding_Transcript|DLEC1_uc003chs.1_5'Flank	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1332					negative regulation of cell proliferation	cytoplasm		p.E1331K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACCCCTGAGGGTGGCTGCCTC	0.627000														70			49		0	0	0.014410	0	0
IRF3	3661	broad.mit.edu	37	19	50166467	50166467	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:50166467C>T	uc002poy.2	-	2	1405	c.386G>A	c.(385-387)gGa>gAa	p.G129E	IRF3_uc021uxp.1_5'UTR|IRF3_uc021uxq.1_5'UTR|IRF3_uc002pot.2_Missense_Mutation_p.G129E|IRF3_uc021uxr.1_5'UTR|IRF3_uc021uxs.1_5'UTR|IRF3_uc002pow.3_Missense_Mutation_p.G129E|IRF3_uc021uxo.1_Missense_Mutation_p.G94E|IRF3_uc002pou.3_Missense_Mutation_p.G129E|IRF3_uc010end.2_Missense_Mutation_p.G129E|IRF3_uc002poz.1_Missense_Mutation_p.G129E|IRF3_uc010ene.1_Missense_Mutation_p.E72K|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank	NM_001197126	NP_001184055	Q14653	IRF3_HUMAN	Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA.	129					MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AGTACTGCCTCCACCATTGGT	0.572000														85			67		0	0	0.014410	0	0
AKAP13	11214	broad.mit.edu	37	15	86265545	86265545	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:86265545G>A	uc002blv.1	+	24	6633	c.6463G>A	c.(6463-6465)Gtt>Att	p.V2155I	AKAP13_uc002blu.1_Missense_Mutation_p.V2159I|AKAP13_uc010bnf.1_Missense_Mutation_p.V776I|AKAP13_uc002blw.1_Missense_Mutation_p.V620I|AKAP13_uc002blx.1_Missense_Mutation_p.V400I	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2155	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAAGTACCCAGTTTTATTCCA	0.433000														43			29		0	0	0.008361	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951827	46951827	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr21:46951827G>A	uc002zhl.2	-	2	578	c.425C>T	c.(424-426)tCt>tTt	p.S142F	SLC19A1_uc010gpy.1_Missense_Mutation_p.S142F|SLC19A1_uc011aft.2_Missense_Mutation_p.S102F|SLC19A1_uc002zhm.2_Missense_Mutation_p.S142F|SLC19A1_uc010gpz.2_Missense_Mutation_p.S21F	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	142					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCGCACGAGAGAGAAGATGTA	0.672000														6			3		0	0	0.004672	0	0
SLC44A1	23446	broad.mit.edu	37	9	108123565	108123565	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:108123565A>G	uc004bcn.3	+	7	1075	c.854A>G	c.(853-855)aAt>aGt	p.N285S	SLC44A1_uc004bco.1_Missense_Mutation_p.N77S	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	285						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GCTGAAGACAATCTTCGGGCC	0.463000														43			23		0	0	0.002780	0	0
COBLL1	22837	broad.mit.edu	37	2	165584664	165584664	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:165584664G>A	uc002ucp.3	-	3	698	c.476C>T	c.(475-477)aCc>aTc	p.T159I	COBLL1_uc002ucq.3_Missense_Mutation_p.T159I|COBLL1_uc010zcw.2_Missense_Mutation_p.T212I|COBLL1_uc010zcx.2_Missense_Mutation_p.T205I|COBLL1_uc002ucs.1_Non-coding_Transcript	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	197										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCTCACTATGGTCTTCTGTGT	0.363000														13			10		0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9075901	9075901	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:9075901T>C	uc002mkp.3	-	2	11749	c.11545A>G	c.(11545-11547)Act>Gct	p.T3849A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3850	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						CTCTGAAAAGTTGCATCTGGA	0.498000														26			11		0	0	0.010729	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:39296152A>G	uc010cxk.2	-	0	588	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	192						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597000														6			3		0	0	0.004672	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004042	75004042	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:75004042G>T	uc004ecj.2	-	0	1038	c.845C>A	c.(844-846)cCa>cAa	p.P282Q		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	282	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATATTCTTCTGGCCAGCTCCA	0.478000														25			25		3.73988e-18	4.02197e-18	0.006320	1	0
SPN	6693	broad.mit.edu	37	16	29675424	29675424	+	Silent	SNP	A	G	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:29675424A>G	uc021tgd.1	+	0	375	c.375A>G	c.(373-375)ctA>ctG	p.L125L	BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Silent_p.L125L|SPN_uc002dtn.3_Silent_p.L125L	NM_003123	NP_003114	P16150	LEUK_HUMAN	Homo sapiens sialophorin (SPN), transcript variant 2, mRNA.	125					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CAAACTCTCTAGGATCCCACA	0.527000														50			47		0	0	0.014410	0	0
AQP3	360	broad.mit.edu	37	9	33442346	33442346	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:33442346G>A	uc003zsx.3	-	4	766	c.663C>T	c.(661-663)ggC>ggT	p.G221G	AQP3_uc010mju.3_Intron|AQP3_uc003zsv.2_3'UTR	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	221					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		AAAGGCGGGGGCCAAAGTCCC	0.662000														21			14		0	0	0.002450	0	0
DLG5	9231	broad.mit.edu	37	10	79569428	79569428	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:79569428G>A	uc001jzk.3	-	23	4594	c.4524C>T	c.(4522-4524)tcC>tcT	p.S1508S	DLG5_uc001jzi.3_Silent_p.S263S|DLG5_uc001jzj.3_Silent_p.S923S|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1508	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.S1508S(2)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCTCCAGCTGGGACTTTTTGA	0.547000														127			63		0	0	0.014410	0	0
ITFG3	83986	broad.mit.edu	37	16	314898	314898	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:314898C>T	uc002cgf.3	+	12	1731	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Silent_p.I512I|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Silent_p.I512I	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	512						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TCTCTGTGATCAAGCACAAGG	0.662000														32			32		0	0	0.009535	0	0
ZNF765	91661	broad.mit.edu	37	19	53911308	53911308	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:53911308C>T	uc010ydx.2	+	5	827	c.500C>T	c.(499-501)tCt>tTt	p.S167F	ZNF765_uc002qbm.3_Missense_Mutation_p.S167F|ZNF765_uc002qbn.3_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GTTGTGAAGTCTATCCACGAT	0.378000														18			24		0	0	0.002780	0	0
MCC	4163	broad.mit.edu	37	5	112406892	112406892	+	Silent	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:112406892G>A	uc003kql.4	-	11	2240	c.1824C>T	c.(1822-1824)acC>acT	p.T608T	MCC_uc003kqj.4_Silent_p.T418T|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Silent_p.T418T|MCC_uc010jcd.1_Silent_p.T380T	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	418					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)		CCAAGGTTATGGTCAGGAGGT	0.453000														62			38		0	0	0.006230	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46058017	46058017	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr21:46058017C>T	uc002zfq.3	+	0	745	c.683C>T	c.(682-684)tCc>tTc	p.S228F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	228						keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TCCTGTGTTTCCCTCCTCTGC	0.682000														37			31		0	0	0.013726	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737760	62737760	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr20:62737760C>T	uc011abt.2	-	0	425	c.425G>A	c.(424-426)cGa>cAa	p.R142Q		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	142						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CACCAGGTATCGGTCCACGCT	0.647000														30			16		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179406269	179406269	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:179406269G>A	uc021vsy.1	-	298	90056	c.89831C>T	c.(89830-89832)tCc>tTc	p.S29944F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S23639F|TTN_uc021vta.1_Missense_Mutation_p.S23572F|TTN_uc021vtb.1_Missense_Mutation_p.S23447F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30871	Fibronectin type-III 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATCACGGGAAACATCAAA	0.453000														1			6		0	0	0.001168	0	0
C3orf20	84077	broad.mit.edu	37	3	14813578	14813578	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:14813578C>T	uc003byy.3	+	15	2952	c.2500C>T	c.(2500-2502)Ccc>Tcc	p.P834S	C3orf20_uc003byz.3_Missense_Mutation_p.P712S|C3orf20_uc003bza.3_Missense_Mutation_p.P712S|C3orf20_uc003bzb.1_Missense_Mutation_p.P335S|C3orf20_uc011avj.2_Missense_Mutation_p.P161S	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	834						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						CTGCAGTGTTCCCAACTCTGT	0.577000														40			29		0	0	0.008361	0	0
NPC1L1	29881	broad.mit.edu	37	7	44571751	44571751	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:44571751C>T	uc003tlb.3	-	8	2531	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	NPC1L1_uc011kbw.2_Silent_p.E825E|NPC1L1_uc003tlc.3_Silent_p.E825E	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	825					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCAGGAGCCCCTCTCCCTGGC	0.642000														51			44		0	0	0.014410	0	0
GCNT3	9245	broad.mit.edu	37	15	59910454	59910454	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:59910454G>A	uc002age.3	+	2	466	c.17G>A	c.(16-18)aGa>aAa	p.R6K	GCNT3_uc002agd.3_Missense_Mutation_p.R6K|GCNT3_uc021smz.1_Missense_Mutation_p.R6K	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	6					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAATGGAAGAGACTCTGCCAG	0.522000														30			21		0	0	0.002780	0	0
LOC646214	646214	broad.mit.edu	37	15	21937133	21937133	+	RNA	SNP	C	A	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:21937133C>A	uc010tzj.1	-	0		c.3607G>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TTTCTGTTACCACATCAGTGA	0.433000														43			5		1.23904e-05	1.32284e-05	0.000602	1	0
USH2A	7399	broad.mit.edu	37	1	215813981	215813981	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:215813981C>T	uc001hku.1	-	67	15274	c.14887G>A	c.(14887-14889)Gag>Aag	p.E4963K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4963	Fibronectin type-III 35.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACACGTACTCCTTCAGTTGG	0.547000										HNSCC(13;0.011)				14			21		0	0	0.008871	0	0
OR5H2	79310	broad.mit.edu	37	3	98002205	98002205	+	Silent	SNP	C	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:98002205C>T	uc003dsj.1	+	0	474	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TAGGTGGCTTCCTCCATGCCT	0.343000														16			13		0	0	0.001855	0	0
MST1P9	11223	broad.mit.edu	37	1	17085590	17085595	+	In_Frame_Del	DEL	GCGCTG	-	-			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:17085590_17085595delGCGCTG	uc010ock.2	-	8	1126_1131	c.1126_1131delCAGCGC	c.(1126-1131)cagcgcdel	p.QR376del	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.K375N(1)|p.Q376_R377delQR(1)|p.Q366_R367delQR(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CAGCGGACCAGCGCTGGCACTGGACA	0.704													---	139	---	---	8	---					
TNXB	7148	broad.mit.edu	37	6	32063513	32063514	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:32063513_32063514delAC	uc003nzl.2	-	2	2318_2319	c.2116_2117delGT	c.(2116-2118)gtafs	p.V706fs		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	706	EGF-like 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAAGCCCTCTACACACACACAC	0.668													---	523	---	---	7	---					
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	CTC	CTC	rs67569765	byFrequency	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:72413723_72413724insCTC	uc003twk.2	+	10	3191_3192	c.3191_3192insCTC	c.(3190-3192)ttc>ttCTCc	p.1064_1065insS	POM121_uc003twj.3_In_Frame_Ins_p.799_800insS|POM121_uc010lam.1_In_Frame_Ins_p.799_800insS	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1064	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663													---	66	---	---	9	---					
PPL	5493	broad.mit.edu	37	16	4943544	4943544	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:4943544delC	uc002cyd.1	-	12	1580	c.1490delG	c.(1489-1491)ggafs	p.G497fs		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	497					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCACCCACCTCCGGGATTCTC	0.687													---	13	---	---	6	---					
ZFX	7543	broad.mit.edu	37	X	24225559	24225560	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:24225559_24225560insT	uc011mjv.2	+	5	1129_1130	c.880_881insT	c.(880-882)attfs	p.I294fs	ZFX_uc004dbd.2_Frame_Shift_Ins_p.I255fs|ZFX_uc004dbf.3_Frame_Shift_Ins_p.I255fs|ZFX_uc004dbe.3_Frame_Shift_Ins_p.I255fs|ZFX_uc022bua.1_Frame_Shift_Ins_p.I255fs|ZFX_uc010nfx.2_Frame_Shift_Ins_p.I26fs|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.3_5'Flank	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.V293A(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CAAGGTGTACATTTTTAAAGCT	0.406													---	44	---	---	31	---					
NKAP	79576	broad.mit.edu	37	X	119077457	119077459	+	In_Frame_Del	DEL	GCG	-	-			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:119077457_119077459delGCG	uc004esh.3	-	0	277_279	c.110_112delCGC	c.(109-114)ccgcgg>cgg	p.P37del		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	37	Ser-rich.				Notch signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	p.R38W(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CGGCGGCCCCGCGGGGAGCGGGC	0.685													---	28	---	---	17	---					
CNGA2	1260	broad.mit.edu	37	X	150911948	150911948	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:150911948delA	uc004fey.1	+	6	1197	c.973delA	c.(973-975)atcfs	p.I325fs		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	325					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TAGGGAATACATCTATTGCCT	0.478													---	150	---	---	10	---